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Immunity 1 Notes

The document discusses the immune system and immunity. It defines key terms like health, disease, pathogens, infection, symptoms, and immunity. The immune system involves tissues, cells, proteins, and other compounds that work together to fight disease-causing agents. There are two types of immunity - innate immunity which is present from birth and provides non-specific protection, and acquired immunity which develops over time and provides long-lasting pathogen-specific protection through processes like vaccination and antibody production. The innate immune system acts as the body's first line of defense using mechanisms like skin, mucus, fever, pH levels, and phagocytic cells.

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0% found this document useful (0 votes)
74 views43 pages

Immunity 1 Notes

The document discusses the immune system and immunity. It defines key terms like health, disease, pathogens, infection, symptoms, and immunity. The immune system involves tissues, cells, proteins, and other compounds that work together to fight disease-causing agents. There are two types of immunity - innate immunity which is present from birth and provides non-specific protection, and acquired immunity which develops over time and provides long-lasting pathogen-specific protection through processes like vaccination and antibody production. The innate immune system acts as the body's first line of defense using mechanisms like skin, mucus, fever, pH levels, and phagocytic cells.

Uploaded by

Parth Kulkarni
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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You are on page 1/ 43

MOHAMMED S ALI

9923312531

IMMUNITY

1. Introduction
Topics Discussed
1.1 Health
INTRODUCTION
y Health is a state of complete physical, mental
DEFINITIONS OF DISEASE, HEALTH ETC. and social well-being, and not merely an
THE IMMUNE SYSTEM AND ITS DISORDERS absence of disease or infirmity (W.H.O – 1948).
VACCINATION y Being in a healthy condition is of great
importance in the life of very individual.
TISSUE GRAFTING
y A healthy person will always be in a position
DISORDERS OF THE IMMUNE SYSTEM to exhibit optimum performance in whatever
IMMUNOTHERAPY activities he/she does.
ACQUIRED AND CONGENITAL DISEASES y Balanced diet, exercise and some appropriate
precautions are essential for maintaining good
SPECIAL FOCUS ON CANCER AND AIDS health.
GENERAL PREVENTIVE MEASURES
ADOLESCENCE, MENTAL HEALTH, ADDICTIONS ETC.
Objectives
At the end of the chapter, you will be able to:
y Learn about the definitions of health and disease.
y Learn about the immune system, its working and disorders.
y Understand the principles of vaccination.
y Know more about diseases.
y Understand the problem of addictions and discuss remedies related to the same.

1.2 Disease
y It is a structural or functional abnormality in an organism which impairs the normal functioning of its
mind and/or body.
y Diseases can be caused due to various factors like infection by harmful micro-organisms, injury, drug
abuse or genetic effects.
y Diseases may be communicable or non-communicable.
y Study of diseases is called epidemiology.

1.3 Pathogens
y Pathogens are disease causing organisms. E.g. Mycobacterium tuberculosis which causes TB.
y Their ability to cause disease is called pathogenicity.
y Virulence is the degree of pathogenicity of an organism.
y Parasite is an organism that leaves in or on an organism (the host) and derives nutrition at the expense
of the host. E.g. Plasmodium which causes malaria.
y Infection is the invasion of an organism by the pathogen, the multiplication of the pathogen in the
organism and the resultant reactions of the organism’s cell/s.

KNOWLEDGE BUILDER
y A physical or psychological trait exhibited by an organism which can indicate the presence
of diseases is called a symptom.
y Incubation period is the time interval between the entry of pathogen and appearance of
symptoms.
y Window period is the time between infection to the point of time when it can be detected.
y Chemotherapy is treatment with chemicals.
y Antibiotics are substances which are produced by organisms that inhibit the growth of or
destroy some other organisms. E.g. Penicillin.
KNOWLEDGE BUILDER
y Analgesic is a substance that relieves pain (Pain killer). E.g. Morphine.
y Antipyretics are substances that help to reduce the body temperature/fever.E.g. Aspirin
(Acetyl salicylic acid).
y Disinfectant is an agent that inhibits or kills microbes on contact. Agents used on living
surfaces may be called antiseptics while those used for inanimate objects may be called
disinfectants.

DID YOU KNOW


y Arthro - Joint (Arthritis)
y Aesthesia - Sensation
y Anesthesia - Lack of sensation)
y Bracy - Short
y Brady - Slow
y Coronary or Cardia - Heart
y Encephalon - Brain
y Enteron - Intestine
y ……emia - Related to blood (Anemia, Protenemia,
Hyperglycemia)
? y Gastric - Stomach
y Hepatic - Liver
y ……itis - Infection or inflammation
y Myo - Muscles
y Metastasis - Cancer cells or tissue spread from one part to
another
y Nephric/Renal - Kidney
y Pulmonary - Lungs
y Patho - Disease
y ……Penia - Decrease (Neutropenia, Leucopenia)
y ……Philia or Cytosis - Increase (Neutrophilia, Lymphocytosis)
DID YOU KNOW
y Phobia - Fear Acrophobia, Hydrophobia, Agoraphobia
y Plegia - Paralysis, (Hemiplegia, Paraplegia, Quadriplegia)

? y
y
Phrenic
Rhine
-
-
Diaphragm
Nose
y Tachy - Fast (Tachycardia-fast heart rate)
y ……uria - Concerning urine (Haematuria)

Important persons-
Father of Medicine – Hippocrates.
Father of Surgery – Susruta.
Father of Ayurveda – Charaka.
Father of Modern Pathology – Rudolf Virchow.
Father of Immunity – Edward Jenner (Small pox vaccine)
Father of Blood grouping – C. Landstainer.
Father of Modern Bacteriology – Robert Koch (Koch Postulates, TB).
Important dates-
30 January - Leprosy day
24 March - Tuberculosis day
07 April - World Health day
26 June - International day against drug abuse and illicit trafficting
01 July - Doctor’s day
11 July - World population day
01 Dec - AIDS day

2. The Immune System


y Humans are constantly exposed to disease causing agents. Yet the occurrence of diseases is relatively
vey very low. This is because we possess a very complex and evolved ‘immune system’.
y Immunity is the ability of an organism to fight disease causing agents.
y Immunology is the study of the immune system.
y The immune system involves tissues like the bone marrow and thymus, cells like T-lymphocytes and B
lymphocytes, proteins like immunoglobulins and also many other compounds.
y Vaccination is a method that harnesses the immune system in a specific manner to protect an organism
from a disease.
Some terms related to immunity
y Antigen/Agglutinogen - A substance which stimulates the production of antibodies.
y Antibody/Agglutinin - It is a complex glycoprotein secreted by B-lymphocytes in response to an
antigen.
y Antiserum - Serum of any animal which contains the antibody for a specific antigen.
y Agglutination - The reaction of antigen and antibody.
y Toxoid - A chemically modified toxin incapable of harming but capable of stimulating an immune
response is a toxoid.
y Interleukin (IL) - They are protein based signals that stimulate the growth of and activate certain WBCs.
There are two types of immunity
y Innate Immunity/Non-specific immunity/Congenital immunity
y Acquired immunity/Specific/Adaptive immunity

2.1 Innate immunity


y It is present since birth.
y It is first line of defense of body.
y Its response is not specific to the pathogen.
y It plays an important role in preventing the entry of pathogens.
y It is very important from the point of view of containing the infection till the adaptive immune system
responds. Otherwise the pathogen load in the body would be extremely high till an adaptive immune
response occurs. This may at time be fatal.
It consists of the following-
Anatomical/Physical Barriers
y Skin-
○ Outermost layer of skin prevents the entry of organisms in the body.
○ Sebum and sweat, the secretions of the skin also have some antibacterial properties. Secretions
of the sebaceous glands create an acidic environment on the skin.
y Mucosal surface-
○ Food and air passages lined by mucosa.
○ Mucosa contains mucus secreting cells and cilia. Mucus entraps the micro-organism and the cilia
‘sweep’ the trapped organism out.
y Physiological Barrier-
Many physiological aspects of the body make the environment unfavourable for the growth of microbes-
○ Fever- High temperature inhibits/slows down the growth of microbes.
○ pH- Acidic pH of the stomach, vagina etc. inhibits the growth of microbes.
○ Secretions- Secretions of body like tears, saliva, and sebum contain lysozyme. It is an enzyme that
destroys the cell wall of the microbes (its target is peptidoglycan).
○ Interferons-They are proteins secreted by virus infected cells which stimulate the neighboring cells
heighten anti-viral defenses.
Types of interferons- INF α, INF β and INF .
y Phagocytosis-
○ In response infection, the total count of WBCs in the blood increases. Some of them are phagocytic.
○ Most important phagocytes are the Macrophages and Neutrophils.
○ Monocytes are liberated at the site of infection. They are later converted into macrophages.
○ Macrophages are large irregular shaped cells that engulf microbes, virus, cellular debris etc.
There are 5 stages of extravasation (coming out from blood vessels) and subsequent phagocytosis-
1. Vasodilation-
Increased diameter of blood vessels at the affected site.
2. Adhesion-
The leucocytes localise at the site of infection.
3. Migration (Diapedesis)-
The leucocytes migrate out of the blood vessels.
4. Chemotaxis-
The leucocytes move towards the pathogens following chemical signals.
5. Phagocytosis-
The pathogen is ingested by the phagocytic cell.
Steps in phagocytosis-
y Attachment of the target to the phagocyte.
y Ingestion by engulfment and formation of a vacuole called phagosome.
y Lysis by the merging of the phagosome with a lysosome. The lytic enzymes in the lysosome are
responsible for the destruction of the microbe.
y A residual body is formed and later disposed off as wastes by the cell.

Inflammation-
y It is a defense mechanism in the body that helps to reduce the spread/multiplication of infectious agents.
y Inflammation peculiarly includes pain, swelling, redness, and increased temperature in the local area.
y The redness and increase in temperature is due to increased metabolism and vasodilation in the
affected area.
y Histamine and prostaglandin secretion from mast cells is chiefly responsible for the pain.

NK-Cells (Natural killer cells)-


y They are large granular lymphocytes. It should be noted that they are different from the Killer T cells.
y They kill virus infected cells and tumor cells of body.
y They use a protein called perforin to create pores in the plasma membrane of their target cells. Excess
water enters through these pores causing swelling and bursting of the target cells.
Complement system-
y It is a part of the innate immune system which can be activated by the adaptive immune system. It
consists of complement proteins.
y They are proteins synthesized by the liver.
y They can serve as opsonins for phagocytosis. The literal meaning of ‘opsonein’ is ‘to make tasty reading
for eating’.
y They also lead to the formation of a MAC or membrane attack complex.

TRY IT YOURSELF
1. Why are infants more prone to gastric infections?
2. Can interferons be used in medicine?

2.2 Acquired immunity


y This type of immunity is founds only in vertebrates.
y Its response varies on the basis of the pathogen/challenge.
y This immunity recognizes the specific pathogen and works on eliminating it.
Special features of adaptive immune system-
y Specificity-
This response is specific for different pathogens.
y Diversity-
This system can recognize a very vast variety of micro-organisms.
y Self and non-self distinction-
It can distinguish self-tissues from non-self cells. In normal cases no immune response is mounted
against the self cells.
y Memory-
In case of the first time a specific pathogen enters the body the adaptive immune system takes a
longer times to recognise and respond to it. This is called primary immune response. Some memory
cells are formed during such pathogenic challenges. If and when a second time the same pathogen
enters the body, the adaptive immune system responds very quickly. This type of response is called a
secondary immune response.

Figure 8.1: Lymphatic system


The cells of the adaptive immune system -
y T lymphocytes and B lymphocytes are the major cells of the adaptive immune system.
y They are subsets of the leukocytes.
y They perform different roles in the adaptive immune response.
Based on these two type of lymphocytes involved the responses can be of two types-
y Cell mediated immunity
y Antibody mediated/ humoral immunity
2.2.1 Cell mediated immunity
y It is based on T-cells.
y There are four type of T-cells-
○ Helper T-cells
○ Killer/Cytotoxic T-cells
○ Suppressor T-cells
○ Memory T-cells
y In the initial stages macrophage interact with pathogens and activates TH (T helper) cell by releasing
cytokines or ILs or monokines.
y The activated helper T-cells stimulate the killer T-cells and the B-cells which start dividing.
y Helper T cells produce lymphokines (a type of messenger molecules). Immune system cells can detect
the lymphokines and follow a path to the location of their production which is the site where there
presence is required. The lymphokines also aid B-cells to produce antibodies.
y Killer T-cells/TCcells destroy the virus infected/tumor cells.
Suppressor Cells (Ts cells) suppress the functions of TC and TH cells. B-cells are also affected by TS cells.
y Memory T-cells are not involved in killing the pathogen but are involved in retaining the memory and
aiding the secondary immune response.
Antigen Presenting Cells-
y Antigen molecules are processed by antigen presenting cells like macrophages, B-lymphocytes etc.
y These processed antigens are presented on surface of these cells. A T-helper cell may recognize the
antigen and become activated. T-helper cells activate the B-cells and Killer T cells. These cells in turn
develop clones by frequent divisions in themselves.

2.2.2 Antibody mediated/humoral immunity


It is based on B-lymphocytes which secret the antibodies.
Antibody-
y An antibody (Ab) is a large, Y-shape protein produced by B-cells. It is used by the immune system to
identify and neutralize pathogens such as bacteria and viruses.
y Antibodies have 2 heavy and 2 light chains (based on the number of amino acids present in the chain).
y Each chain has some ‘constant region’. The amino acid sequence of this region is the same for a
particular type of antibody.
y Each chain has a ‘variable region’ at one end. This region is responsible for the antigen recognition
diversity.
y Each tip of the upper tips of the “Y” of an antibody contains a paratope (analogous to a lock) that is
specific for a particular epitope (analogous to a key) on an antigen, allowing these two structures to
bind together with precision.
y This binding mechanism, is used to tag a microbe or an infected cell for attack by other parts of the
immune system.
y Alternatively, this can also neutralize its target directly by blocking a part of a microbe that is essential
for its invasion and/or survival.
y The antibody also has an Fc receptor at the ends opposite to the variable region (located at the base of
the “Y”). It contains a glycosylated site. This region is involved in interaction of the antibody with other
components of the immune system.

Figure 8.2: Structure of antibody


Gist of actions of an antibody-
y Agglutination- Antibodies attach with the antigen which is present on the surface of pathogen.
y Opsonisation- Attachment of bacteria (Ag) with opsonins (IgG and IgM) promotes phagocytosis.
y Neutralization- Antibodies neutralize the toxin of bacteria by attaching with them.

Types of Antibodies-

Type Main characters and occurrence Functions

y Present in mucus membranes, gut, urogenital tract Protection of mucous membranes


and colostrum (breast milk during the initial stages and outer surface of body.
IgA of feeding). Protection from inhaled or ingested
y M.W. 1,70,000 Daltons. pathogens.
y Present on the surface of naive (or unexposed) B
cells. Activation of B-lymphocytes.
IgD y They are known to activate mast cells and Development and maturation of
basophils. immune reactions.
y M.W. 1,85,000 Daltons.
y Present in very small quantities.
y Binds to allergens. Stimulation of mast cells, related to
IgE allergic reactions and protection from
y Involved in tackling parasite infections. parasites.
y M.W. 1,88,000 Daltons.
y Most abundantly found.
To stimulate the complementary
y Main immunoglobulin of the blood and intestinal system.
fluid.
IgG To provide protection to embryo.
y Can cross the placental barrier and thereby provide
protection to the fetus. Linkage with phagocytic cells for
phagocytosis.
y M.W 1,46,000 Daltons (lightest).
y First antibody secreted in response to antigens.
y Largest sized immunoglobulin. Strong agglutination
IgM
y Pentameric form. Related to complement system
y M.W. 9,60,000 Daltons (heaviest).
(One may also remember the types as- MADGE)

2.2.3 Active and Passive Immunity


y When an organism is exposed to antigens which may be in the form of living or dead microbes or
proteins, antibodies are produced in the host body. This type of immunity is called active immunity.
y Active immunity takes time to mount a response.
y Injecting the microbes deliberately during immunization or infectious agents gaining access to the body
during natural infection induces active immunity.
y When ready made antibodies are directly provided to protect the body against foreign agents, the type
is called passive immunity.
y The yellowish fluid termed as ‘colostrum’ secreted by the mother during the initial days of lactation is
abundant in antibodies (IgA). They serve to protect the infant. The fetus also receives some antibodies
from the mother, through the placenta during pregnancy. If a person is infected with some deadly
microbes to which quick immune response is required example tetanus, the performed antibodies,
or antitoxin is directly injected. Even in cases of snakebites, preformed antibodies against the snake
venom are administered. This type of immunization is called passive immunization.

Table 8.2: Difference between Active and Passive immunity


Active immunity Passive immunity
Produced actively by the immune system of host. Received passively by the host and the host’s
immune system does not participate.
Induced by infection or by contact with Conferred by introduction of ready-made antibodies.
immunogen, e.g. vaccines.
Immune response is not short-lived and is Immune response-short lived and less effective.
effective.
Immunity develops only after a lag period. Immunity effective immediately.
Immunological memory present. Subsequent NO immunological memory. Subsequent
challenge with booster dose more effective. administration of antibody less effective due to
immune elimination**.
Serves no purpose in immunodeficient host. Applicable in immunodeficient host.
Used for prophylaxis to increase body resistance. Used for treatment of acute infection.

** If a certain type of non self antibodies are administered in the body, they themselves serve as antigens
and elicit an immune response (may be very weak). The next time these antibodies are administered, they
are promptly neutralised as a result of ‘secondary immune response’.

TRY IT YOURSELF
1. Describe the structure of an antibody.
2. IgG is pentameric. (True/False)
3. B cells secrete antibodies. (True/False)
4. Write a short note on the innate immune system.

3. Vaccination
A vaccine is a biological preparation which provided active acquired immunity to individual upon administration.
3.1 Scientists
y It is said that ‘inoculation’ a practice corresponding to vaccination was performed in ancient China.
y Edward Jenner’s work with small pox is regarded as a pioneering work in the field of vaccination.
y Louis Pasteur introduced the process of heat inactivating the pathogens and prepared vaccines for
anthrax, rabies etc.
y Emil Von Behring discovered the process of passive immunization. He is known as father of passive
immunization.

3.2 Principle of Vaccination


y When an antigen is introduced in a healthy person, it induces production of antibodies and memory
cells as a primary immune response. When the actual active pathogen enters the body of a vaccinated
person,due to the presence of memory cells it is rapidly recognized and eliminated.
y Thus the person does not suffer from the disease and becomes resistant to infection by the particular
type of pathogen.

3.3 Types of Vaccines


First generation vaccines-
These vaccines are prepared by inactivating the whole pathogen. They may have side effects.
y Live attenuated (E.g. BCG, Small pox, Influenza etc.)
The pathogen is grown under conditions that make it lose its pathogenicity but not its antigenic identity
which is of importance pertaining to the immune system.
y Inactivated (E.g. Typhoid, Salk polio, Cholera, Rabies, Plague etc.)
As the name suggests, a killed pathogen is used for administration.
y Toxoid (E.g. Diphtheria, Tetanus)
The inactivated form of a pathogen’s toxin is administered. They are very effective.
Combinations of various pathogens can be integrated into a single vaccine and used to generate immunity
against them. Such vaccines are called combination vaccines.
Second generation vaccines-
y Antigenic polypeptides of pathogens are produced (or isolated) and administered. These are incapable
of causing disease but elicit immune response. E.g. plague.
y Polysaccharides (which are poorly immunogenic) of the pathogens conjugated with proteins (which
are fairly immunogenic) may also be used in place of protein subunits. E.g. Pneumococcal vaccines.
Third generation vaccines-
E.g. DNA vaccines, Dendritic cell vaccines etc. They are in experimental stages.
TRY IT YOURSELF
1. Which of the following disease is not transmitted through contaminated water?
(A) Typhoid (B) Diphtheria (C) Hepatitis A (D) Amoeblesis
2. Manton test is for
(A) Scarlet fever (B) Diphtheria (C) Rheumatoid fever (D) Tuberculosis

4. Tissue Grafting
4.1 HLA
y The human leukocyte antigens are proteins on the surface of cells that are responsible for regulation
of the immune system in humans.
y This group of genes are present on chromosome 6 (with some exceptions) and encodes antigen-
presenting proteins.
y HLA in humans correspond to MHC (major histocompatibility complex) in vertebrates.
y Any cell bearing HLA of non-self type is marked for elimination by immune response.

4.2 Tissue Grafting


y Grafting refers to a surgical procedure used for moving a tissue from one site to another. This term is
not specific to within the same body or not.
y HLA typing has to be carried out to check the compatibility of the donor cells inside the body of the
receiver.
y The pecking order for graft selection should be-
Identical twins > Siblings > Parents > Unrelated donor.
y Cyclosporine may be used as an immune-suppressant drug during/after tissue grafting.
y It can be understood that all this is of high significance from the point of view of transplantations.

4.3 Types of Tissue Grafting


y Autograft- (most successful) Transplantation of tissue from one part of the body to another within the
same individual.
y Isograft- Transplantation of tissue in between the individual of same genetic constitution. E.g. graft
between identical twins
y Homograft or allograft- Tissue grafting in between genetically dissimilar individual of the same
species. E.g. Family members.
y Heterograft or Xenograft- Tissue grafting between organisms of different species.
TRY IT YOURSELF
1. Anthrax is caused by
(A) Virus (B) Vibrio (C) Bacillus (D) Saimorrehra
2. A common disease of domesticated animals
(A) Anthrax (B) Syphilis (C) Cholera (D) Diphtheria

5. Disorders of the Immune System


5.1 Hyper Sensitive Disorder or Allergy
y The phenomenon of a person exhibits a highly above average response or hyper sensitiveness for a
common antigen or agent is called allergy.
y The agents which cause allergies are called allergens.
y Pollen grains, some food preparations (egg, fish), medicines (penicillin) etc. are common allergens.
y The antibodies produced to these are of IgE type.
y Symptoms include sneezing, watery eyes, running nose and difficulty in breathing.
y It is due to the release of chemicals like histamine and serotonin, from the mast cells.
y For determining the cause of allergy, the patient is exposed to or injected with very small doses of
possible allergens, and the reactions studied.
y The use of drugs steroid based and other anti-histaminic drugs quickly alleviates (makes less severe)
the symptoms of allergy.
y It is said that modern lifestyle which leads to a highly protected environment in early stages of life leads
to development of allergies.
Bronchial Asthma-
Mode of entry of the pathogen is via inhalation. It is characterized by the spasm of the smooth muscles
present in the walls of the bronchiole. It is caused due to the hypersensitivity to the foreign substances
present in the air passing through it. The mucous membranes on the wall of the air passage start secreting
excess amount of mucous.
Symptoms-
Coughing and difficulty in breathing mainly during expiration (Wheezing).
Prevention and cure-
Avoiding exposure to allergens.
Hypo-sensitisation by small doses of the specific allergen.
Antibiotic therapy for removing the infection if any and use of bronchodilator drugs, inhalers for symptomatic relief.
Hay fever-
Mucosa of eyes and upper respiratory passage become hyper secretory in response to the allergen (pollen
grain).
Eczema (Dermatitis)-
Symptoms include reddening of skin, scales formation.
Anaphylactic shock-
This is a severe form of allergy. If an allergen enters into the blood, it stimulates the secretion of histamines
from the mast cells of the whole body causing vasodilation and increasing the permeability of the blood
vessels. Resultantly a large amount of fluid is leaked out form blood vessel into extra cellular space. Excess
fall in the blood pressure may be fatal.

5.2 Autoimmune Disorder


y When the immune system is unable to discriminate between self and non-self antigens, antibodies are
formed against the self-antigen also.
y These antibodies destroy the self-antigen bearing cells.
y Thus the antibody formation against self antigens is called auto immunity.
y This occurs due to the failure of the body to eliminate the immune cells with an ability to target self cells.
Examples-
y Myasthenia gravis-
Antibodies are formed against acetylcholine receptors resulting in their destruction. This leads to
reduced efficiency of impulse conduction by the nervous tissue.
y Pernicious anemia-
Antibodies are formed against some cells of the digestive system due to which vitamin B12 is not
absorbed in intestine and blood formation is decreased. This deficiency of blood is called pernicious
anemia.
y Hashimoto disease-
Antibodies are formed against the thyroid gland. These antibodies destroy the thyroid gland and cause
a deficiency of thyroid hormone.
y Rheumatoid arthritis-
In simple terms, the disease results due to the immune system attacking the joints. There is swelling of
the synovial membrane. The causes of this disease are not perfectly determined. Some genetic factors
are known to play a role.
Treatment-
Pain and inflammation can be alleviated by heat treatment and physiotherapy. Joint replacement
surgery may be carried out in extreme cases.
y Insulin dependent diabetes mellitus-
Antibodies are formed against some cells of the pancreas. This causes deficiency of insulin in body.
Symptoms are hyperglycemia, glycosuria, polyuria, polydipsia (excessive thirst), polyphagia (increased
food intake).
y Multiple sclerosis-
Antibodies are formed against the myelin sheath of nerve cells leading to destruction of myelin sheath
causing neurological dysfunction.

5.3 Immunodeficiency Disorders


y The body is unable to mount a proper immune response.
y May be due to genetic mutation, absence of some genes, infection, malnutrition and accidents.
Examples-
S.C.I.D or Severe Combined Immuno-Deficiency–
This disorder is due to genetic mutations or deficiency of enzyme adenosine deaminase due to genetic
reasons. This enzyme involved in formation of T and B lymphocytes. SCID characterized by very low
number of circulating thymocytes. Affected individual die at a very early age.
Treatment – Gene therapy
A.I.D.S. (Acquired Immuno-Deficiency Syndrome)–
Human Immunodeficiency Virusleads to destruction of T-helper cells. This causes the decrease count of
T-helper cells from normal 950/mm3 to less than 200/mm3.

TRY IT YOURSELF
1. Cholera is accompanied by
(A) Rapid loss of fluid from the intestine (B) Infection of heart muscles
(C) Peptic ulcers (D) Rose spots
2. Select a diarrhoeal disease from the tolfowing
(A) Cholera (B) Tetanus (C) Plague (D) Whooping cough
6. Immunotherapy
y Immunotherapy is the treatment of a disease by inducing, enhancing or suppressing an immune
response.
y Immune responses can be modulated bysuitably altering the working of the various components of the
immune system. They may include interleukins, interferons and tumor necrosis factors (TNFs).
y Immunomodulators are drugs that modulate the activity of a patient’s immune response to reach a
desired level of therapeutic effect.
Types-
y Immunoactivation therapy–
It aims to heighten the immune response. E.g. administration of preformed antibodies.
y Immunosuppressive therapy-
It aims to reduce the immune response by the use of cytokine inhibitors or other drugs.

7. Diseases
They can be of two types-
y Congenital or genetic disorders.
y Acquired disorders.

7.1 Congenital or Genetic Disorders


y They occur due to faults in the genome of the organism.
y They may be inheritable or non-inheritable
y They may be due to recessive type or dominant type genes.
y Gene therapy is the only proposed ‘cure’ for these disorders. Most approaches are in clinical trials.
y It is observed that almost all the existing treatments aim to alleviate the symptoms and improve ‘quality
of life’ rather than treat the disorder.
Autosomal Recessive Disorders
They are linked to autosomes. As the mutant genes are recessive many individuals may be carriers of the
mutant genes but may now suffer from the diseases as they have a dominant ‘healthy’ version of the gene.
Phenylketonuria (PKU)-
y It occurs due to the deficiency of an enzyme called phenyl alanine hydroxylase.
y The levels of phenylalanine in the blood increases.
y This phenylalanine or phenyl pyruvic acid accumulates in brain and destroys the brain cells.
y This causes mental retardation.
y Phenyl acetate is present in urine and sweat.
y If detected at an early age, a diet with low quantities of phenylalanine along with some medication can
be used to keep the levels of phenylalanine in check and thereby ensure proper brain development.
Alkaptonuria (Black Urine Disease)-
y It occurs due to deficiency of enzyme homogentisatedioxygenase which is involved in tyrosine
metabolism.
y There is accumulation of alkaptone and homogentisic acid in blood and in tissues like joints, ligaments,
tendons, cartilages
y It is also excreted in urine which leads to black colour of the urine when it is exposed to air.
y There is no cure for the disorder and the treatment includes C vitamin doses and monitored diet.

Albinism-
y This disorder is due to deficiency of the enzyme tyrosinase.
y Due to its necessity in melanin production, the body parts like skin, iris of eye etc., become melanin
deficient.
y This leads to a ghostly white appearance.
y Melanin provides protection against U.V. rays.
y There is no cure for this disorder. The patients use various optical aids and have to take precautions
in order to avoid sun-burns.
Tay-Sachs Disease-
y This disease was first reported by Tay and Sachs.
y This genetic disorder occurs due to the deficiency of enzyme β-N acetyl hexose aminidase which is
involved in fat metabolism.
y The fat accumulation damages the nervous cells leading to progressive destruction.
y Mental retardation and paralysis is seen.
y The child does not live beyond 3-4 years.
y There is no cure or treatment. Genetic screening is regarded as a promising approach with respect to
analyzing the risks before conception.
Thalassemia/Cooley’s anaemia-
y This disorder was, first noted in the population of Mediterranean region.
y Mutations cause a decrease in synthesis of β and α (mainly β-chain) polypeptide chain of hemoglobin.
y Hb in the body reduces and less RBCs are found in circulation.
y Treatments include blood transfusions (not in excess) and chelation therapy to remove excess iron
from the body. Some people do not require any major treatment.
Sickle cell anaemia-
y Glutamic acid is replaced by valine at the 6th position in the β chain of hemoglobin.
y This abnormal Hb changes the shape of RBCs from spherical to sickle shaped.
y Sickle cell anemia patients are resistant to malaria.
y Treatment approaches include blood transfusions, folic acid supplements, bone marrow transplant,
doses of antibiotics to prevent infections etc.
Autosomal dominant gene mutational disorder
They are linked to autosomes. Females do not have any specific protection with regard to these types of
disorders.
Examples-
y Polydactyly
Presence of extra fingers and toes
y Brachydactyly
Presence of abnormal short fingers and toes.
y Huntington’s disease
This disorder occurs due to the dominant mutation occurring on the 4th chromosome. Mental and
muscle degeneration is seen in patients. It causes abnormal movement of limbs and defective speech.
This disease manifests at the age of 25-55 yrs. of age. Nerve degeneration causes involuntary shaking
of legs, arms and head.
y Achondroplasia/Dwarfism
The defective formation of cartilaginous bones causes dwarfism
y Marfan syndrome
Mutation is present on the 15th chromosome. The connective tissue is affected. Sometimes the heart
valves and aorta are also affected leading to death.
X-Linked recessive disorders-
These are linked to genes on the X chromosome. They may not be manifested in females as they have
2 copies of the X chromosome and may have the ‘healthy’/non mutant version of the gene on one X
chromosome which negates the effect of the mutant on the other X chromosome.
E.g. Glucose-6-Phosphate dehydrogenase (G-6-PD) deficiency syndrome
y The G-6-PD enzyme is present in the RBCs.
y This enzyme stabilizes the membrane of R.B.Cs.
y Deficiency of this enzyme causes the rupture of R.B.Cs when it comes in contact with sulfa drugs,
chloroquine or some bean legumes.
Duchenne’s muscular dystrophy
y Dystrophin protein is absent in muscles.
y This protein helps in the conduction of Ca++ ion.
y Due to deficiency of dystrophin protein muscles cannot contract properly.

X-linked dominant disorders-


The mutant genes causing these genes are dominant and hence females have no special protection against
them. E.g. - Goltz syndrome, Aicardi syndrome, Fragile X syndrome.
Fragile X syndrome
The patients for this disease may satisfy the criteria for autism. They have cognitive disabilities. Other
characteristics may include long faces, large testes etc.
Aneuploidy linked diseases-
They occur due to the occurrence of an abnormal number of chromosome in a cell.
Autosomal Aneuploidy-
The number of autosomes is less or more than normal.
Down’s Syndrome/Mongolism
y This disorder was first reported by John Langdon Down.
y It is first aneuploidy linked disorder to be discovered.
y It causes mental retardation in children.
y Its frequency or incidence 1 in 700 children.
y This abnormality or disorder occurs mostly by fusion of normal sperm with abnormal ovum. This
abnormal ovum contains an extra 21st chromosome.
y Women around the age of 45 are more likely to give birth to children having Down syndrome.
y Symptoms include short stature, rounded face, extra folds in eye lids (epicanthus), broad fore head,
retracted tongue and lower lips, flattened nasal bridge, open mouth, short neck, flat hands, stubby
fingers, undeveloped genitals and gonads and mental retardation.
y Amniocentesis can be carried out to detect this syndrome in embryonic stage.
Edward’s syndrome/Trisomy 18
y Its incidence is 1 in 8000 births.
y The symptoms include defective formation of ears and nervous system. Mental retardation, small eyes
(micropthalmia), small jaw (micrognatha) etc.may also be seen.
y As per name the abnormality exists in the number of copies of the 18th chromosome.
Patau’s syndrome/Trisomy 13
y Symptoms include polydactyly, small hands, tiny eyes, mental retardation.
y As per name the abnormality exists in the number of copies of the 13th chromosome.
y Incidence 1 in 15000 births
Cri-du-chat syndrome
y This disorder occurs due to partial deletion of the short arm of chromosome 5.
y Patients are mentally retarded and exhibit characteristic cat like cry.
y It occurs in 1 per 50000 births and is said to be more common in females.

Sex chromosomal (Aneuploidy)


The number of sex chromosomes is abnormal.
Klinefelter’s syndrome
y It occurs when more than one X chromosome is present along with a lone Y chromosome.
y The features of a person suffering from this disorder are- person is male, sterility, weaker muscles, less
body hair, development of breasts and lack of interest in sexual activities etc.
y In some cases the symptoms are very much less prominent making the detection very difficult.
y The severity of the symptoms increases with the number of X chromosomes.
y The disease occurs due to fusion of an egg with two or more X chromosomes with a normal sperm or
due to the fusion of an egg with a sperm having both X and Y chromosomes.
y The occurrence is 1 per 500-100 live male births.

Turner’s Syndrome
y The individuals are females. They have only one X chromosome. Thus they have only 45 chromosomes.
y Some cases may have one complete and 1 partial X chromosome.
y Symptoms – Sterile females, primary amenorrhoea (absence of menstruation), undeveloped ovaries,
small uterus, shielded chest, webbed neck, mental retardation, short stature.
y Cardiovascular malformation is present in many cases and is a cause of death.
y The frequency is 1 in 2000 to 5000 female births.

Jacob’s Syndrome
y Incidence is 1 in 1000 live male births.
y It occurs due to the fusion of a YY sperm with a normal egg or due to errors in cell division after the
formation of zygote.
y The use of the word ‘syndrome’ with respect to this case is highly debated as the individuals do not suffer
from any disease or disorder. They even have an IQ which is greater than the patients of Klinefelter’s
Syndrome or Turner’s syndrome and which is equal to the normal population. It goes undetected in
many cases.
y The testosterone production is high and hence the height is more than the average.
y As against previous beliefs, these males are not ‘by default more aggressive’ than XY males.
Super females
y They are females with more than 2 X chromosomes.
y Similar to Jacob’s syndrome, the symptoms are very mild and the individuals do not suffer from any
concrete disorders owing to the karyotype.
y They may show accelerated growth in their childhood and a more than average height.
y They also may have some learning disabilities and a shy personality in their childhood.

Table 8.3: Disorders and the chromosomal abnormalities


Disorder Chromosome number
Huntington’s Chorea 4th
Cri-du-chat syndrome 5th (short arm)
Cystic fibrosis 7th
Sickle cell anemia 11th
PKU 12th

7.2 Acquired Disorders


These are diseases which an individual may acquire after birth. They may be caused due various infectious
agents like bacteria, viruses etc. Sometimes, certain chemicals may also be a cause of diseases. They are
not due to chromosomal aneuploidy. Categories of Acquired Disorders -
y Communicable/Contagious/Infectious diseases
They may be-
○ Bacterial
○ Viral
○ Protozoal
○ Helminthic
y Non-communicable or non-infectious disease
They may be-
○ Degenerative
○ Deficiencies
○ Cancer

7.2.1 Bacterial Diseases


Table 8.4: Bacterial diseases
Mode of
Disease Pathogen Symptoms Detection Treatment
transfer
Rifampicin,
Chronic cough, Ethambutol etc.
fever, weakness, Direct
Air borne. bloody sputum, Mantoux test Observation
Mycobacterium breathlessness.
Tuberculosis Droplet Sputum Therapy (DOT)
tuberculosis
inhalation. High grade analysis to ensure that
fever, difficulty in medicines are not
breathing skipped.
Vaccine- BCG
Fever, chills,
fatigue, bluish skin
coloration, sore
throat, hoarseness, Erythromycin
Direct cough, headache, Isolation of Penicillin variants
Corynebacterium
Diphtheria contact. painful swallowing, pathogen
diphtheriae Vaccine-
Air borne difficulty breathing, from patient
rapid breathing, Quinvaxem
foul-smelling
bloodstained nasal
discharge
Isolation of
pathogen
Pertussis from host.
Erythromycin
Bordetella Severe cough, Polymerase
(100 days Air borne Vaccine is
pertussis Whooping cough Chain
cough) available.
Reaction
(PCR) based
detection.
Doxycycline
Electrolyte
Cholera Diarrhoea. Rice Dipstick supplements
Vibrio cholerae Water borne water stools, drop based test. Vaccine available.
in blood pressure. Stool test Filtration of water
using a cloth can
be useful.
Streptococcus Chest
Air borne, Amoxicillin
radiograph.
Pneumonia pneumoniae droplet Persistent large Amantadine
Also caused by inhalation. Blood culture.
bouts of cough. (If viral)
Haemophileus PCR based
influenzae Vaccine available
detection.
Anti-toxin
Soil, manure antibodies
coming in Muscle spasms. No specific Metronidazole
Tetanus Clostridium tetani
contact with test
open wounds. Magnesium (IV)
Vaccine available
Patches on skin, Symptoms
Direct ulcers and nodules based on Dapsone
Leprosy Mycobacterium contact. formation in skin isolation from
leprae Nasal and nerves, BCG vaccine may
host be useful
droplets. wasting of fingers
and toes
Stomach pain,
constipation, Cephalosporins
Typhoid Contaminated
headache, high
Salmonella typhi food and Widal test Ampicillin
fever, loss of
water Vaccine available
appetite, intestinal,
ulcers, bradycardia
High fever,
headaches, Streptomycin,
enlargement
Plague Yersinia pestis Vector borne Blood tests gentamycin etc.
of axillary
lymph nodes, Vaccine available
unconsciousness
Note: The antibiotics mentioned are not the only ones used for the treatment of the disease.
7.2.2 Viral diseases
Table 8.5: Viral diseases
Mode of
Disease Pathogen Symptoms Detection Treatment
transfer
No cure.
Antibiotics,
Polio virus physiotherapy
Fecal Fever, headache, etc.
Polio (Group-Picorna Testing CSF
matter limb damage
virus) Vaccination is
effective and
important.
Coughing, Amantadine,
Influenza sneezing, sudden Oseltamivir
(Avian, Swine Othomyxovirus Air borne fever after Throat swabs
headache, nasal Vaccine
etc.) available
discharge
No specific
4 day fevers, Symptom based.
Air borne treatment. Rest
cough, brown Detection of viral etc.
Measles Paramyxovirus Direct
patches across RNA in the nasal
contact the body Vaccine
discharges
available
No specific
treatment.
Direct
Symptoms based. Wearing of
contact
PCR based test gloves, anti-itch
Chicken pox Pox virus Sometimes Fever, blisters of amniotic fluid ointments etc.
via coughs across the body for detection in Aspirin should
and embryos NOT be used
sneezes
Vaccine
available
No specific
cure.
Fever, white- Rest etc.
Respiratory Symptom based
Mumps Para myxovirus brown patches on Aspirin should
droplets PCR based
the body. NOT be used
Vaccine
available
PCR based tests No specific
Vector
Blood testing for drugs. Oral
borne.
Dengue Arbovirus High fever, rash WBC counts rehydration
Aedes
Torniquet tests for Vaccine NOT
aegypti
hemorrhage available.
No specific
cure
Vector Affects nervous
Fluorescent
Rabies Rhabdo virus borne. Dogs system, Vaccine
antibody test
etc. hydrophobia etc. available. It is
effective for
treatment also.
NO specific
cure
Infects nose and As the number
upper respiratory of viruses
tract but not the causing it is
Common Droplet lungs, Nasal high and as
Rhinovirus Symptoms based
cold infection congestion they mutate
and discharge, very fast, there
headache, is no vaccine
tiredness. preparation
that has shown
promise
No specific
cure
Aspirin should
Vector PCR based NOT be used
Fever, joint pain, detection
Chikungunya Togaviruses borne. Vaccine not
arthritis.
Mosquitoes Nonspecific test available. In
experimental
stages

Tamiflu.
H1N1 Influenza Flu like Throat swabs used
Swine flu Air borne
virus symptoms for PCR based tests Vaccine
available
Some drugs
Hepatitis A, Blood to Blood chemistry, available.
Enterovirus Jaundice
B, C, D, E blood ELISA Vaccines
available
Unprotected
sexual
intercourse, Anti-Retroviral
Exposure Cocktail
AIDS to infected
HIV Reduced (At-least 3
Acquired bodily fluids Serological tests for anti-Retroviral
Human immunity.
Immuno- anti-HIV antibodies. drugs)
Immuno- Via sharing Opportunistic
deficiency Western blot
deficiency Virus of syringes infections Zidovudine
Syndrome
From No promising
infected vaccine
mother to
fetus

Figure 8.3: Boy suffering from chicken pox Figure 8.4: Boy suffering from mumps

DID YOU KNOW


? Aspirin consumption (especially by children) during some viral infections can cause
Reye’s syndrome, a potentially fatal condition affecting the liver and the brain.

DID YOU KNOW


Typhoid Mary

? She was a cook by profession and was a typhoid carrier who continued to spread
typhoid for several years through the food she prepared. She was twice forcibly isolated
by public health authorities and died after a total of nearly three decades in isolation.
She is said to have infected 51 people.
7.2.3 AIDS (Acquired Immuno Deficiency Syndrome)
y AIDS was first reported in 1981.
y It was first detected in homosexual males in USA at Centre for Disease Control, Atlanta.
y It has resulted to more than 25 million deaths.
y HIV I is more common in India and HIV II is more common in West Africa.
y It is characterized by decrease in number of helper T-cells.
y HIV (Human Immuno Deficiency Virus)
○ It is roughly spherical
○ It is around 60 times smaller than a red blood cell,
○ It is composed of two copies of single-stranded RNA
○ The RNAs are enclosed by a conical capsid composed of 2,000 copies of the viral protein p24.
○ The RNA is tightly bound to nucleocapsid proteins
○ A matrix composed of the viral protein p17 surrounds the capsid.
○ The matrix is surrounded by the viral envelope that is composed of two layers of phospholipids.
○ A viral protein and some host proteins are embedded in the envelope. This glycoprotein enables
the virus to attach to and fuse with target cells

Figure 8.5: Human Immuno-deficiency Virus


y Modes of transfer
○ Due to unprotected sexual intercourse with infected partners.
○ Contact of blood with infected tissue/blood.
○ Use of unsterilized material for tattooing or any practice that punctures the skin.
○ From mother to fetus during pregnancy.
○ From mother to child during lactation.
○ AIDS does not spread through mere touch, hugging, sharing meals, shaking hands, mosquito
bites, coughing, sneezing etc.
y Infection
○ After getting into the body of the person, the virus enters into macrophages.
○ Here the RNA genome of the virus replicates to form viral DNA and makes use of the cellular
machinery to produce more and more virus particles.
○ HIV enters T-helper cells and continue to multiply.
○ The progeny viruses are released in the blood. They attack other T-helper cells.
○ This leads to a progressive decrease in the number of T-helper cells.
○ The person suffers from fever, diarrhoea and weight loss.
○ Due to decrease in the number of T-helper cells, the person suffers from infections that the immune
system otherwise could have overcome.
○ The person becomes immuno-deficient.

Figure 8.6: Multiplication cycle of Retrovirus


Symptoms
y Asymptomatic phase
○ For 5-10 years antibodies are not produced against HIV.
○ There are no specific symptoms.
○ ELISA test comes out to be negative.
○ A fever and some illness may occur in 2-4 weeks after the infection.
y Full blown AIDS
○ The person suffers from fever, diarrhoea and weight loss.
○ The person becomes immunodeficient.
○ The person gets infected by opportunistic infections.
○ The person may suffer from Kaposi’s sarcoma, Burkitt’s lymphoma, primary central nervous
system lymphoma and cervical cancer.
○ Suffering from Pneumonia, TB is possible.
y Diagnosis
○ ELISA- Enzyme linked immunosorbent assay-
○ It is a sensitive test for detection of proteins.
○ Western Blot test for antibodies against HIV in the patient’s serum.
○ PCR based test.
y Treatment
○ Reverse transcriptase inhibitors- Zidovudine (previously called AZT), Stavudine, Trizivir, Foscarnet,
DDI (Didexymidine) etc.
○ Protease inhibitors-Ritonavir, Nelfinavir etc.
○ HAART (Highly Active Anti-Retroviral Therapy) includes both reverse transcriptase inhibitors and
protease inhibitor drugs.
○ Treatment does not cure. Only helps to reduce viral load.
y Prevention
○ Use of appropriate contraceptives/protection (condoms) during sexual intercourse.
○ Proper sterilization of surgical equipment.
○ Use of disposable instruments for any body puncture practice.
○ Avoiding intra-venous drug use and sharing of needles, razors etc.
○ Creating social awareness.
7.2.4 Protozoan diseases
Table 8.6: Diseases caused by protozoans
Mode of
Disease Pathogen Symptoms Detection Treatment
transfer
Fever, chills, head- Chloroquine,
ache, body-ache,
severe weakness, hydroxychloroquine
shivering. Anti-pyretic drugs
The parasites first etc.
reside in the liver Spraying of anti-
asymptomatically mosquito chemicals
Plasmodium Vector borne. (1-4 weeks) and then on stagnant
vivax The parasite invade the RBCs. Blood film test. water and other
Plasmodium spreads They rupture RBCs PCR based areas, rearing
Malaria
falciparum via female to infect new ones. tests are rarely of Gambusia
Anopheles These cycles of used. fishes which eat
Plasmodium
mosquito. rupture lead to the mosquito larvae,
malariae
bouts of fevers and use of mosquito-
chills. repellent ointments,
mosquito nets etc.
The pathogen has are preventive
adapted various measures.
mechanisms to avoid
the action of immune No vaccine is
system. available.
Blood in stools, Metronidazole,
Contaminated aggressive diarrhoea, paromomycin etc.
Amoebic Entamoeba Testing of
food and fever, weakness,
dysentery hystolytica stools, blood Vaccine is NOT
drinks chills, abdominal
cramps etc. available
Figure 8.8: Life cycle of Plasmodium

TRY IT YOURSELF
Elucidate the life cycle of Plasmodium.
7.2.4 Helminthic diseases
Table 8.7: Helminthic diseases
Mode of
Disease Pathogen Symptoms Detection Treatment
transfer
Presence of worms/ Albendazole,
eggs in stools. Very mebendazole,
much asymptomatic levamisole
in initial phase. and pyrantel
pamoate.
The worms may
cause obstruction of No vaccine is
Ingestion intestine. Detection available. If
Ascariasis
Ascaris of eggs via The worms derive via testing the infection
Round worm lumbricoides contaminated nutrients from the stools (Kato is common in
infection food, soil etc. host leading to technique) an area, all the
school children
malnutrition
and other
Swelling of liver may population may
be seen. Sometimes be given the
the worms may enter medicines as
the lungs and come a preventive
out from the mouth. measure.
Albendazole,
ivermectin
No vaccine is
Nocturnal available. If
Wuchereria Vector borne. collection the infection
Elephantiasis bancrofti Extremely enlarged is common in
Culex of blood
or Filariasis limbs or genitals
W. malayi mosquito samples and an area all the
microscopy population may
be given the
medicines as
a preventive
measure.
A B
Figure 8.9: A. Normal foot and B. Foot affected by filariasis

7.2.5 STDs (Sexually Transmitted Diseases)


Table 8.8: Sexually transmitted diseases
Mode of
Disease Pathogen Symptoms Detection Treatment
transfer
Single dose of
intramuscular
benzathine Penicillin G.
Doxycycline and
Sexual Ulcers on
tetracycline.
Treponema intercourse genitals, blisters
Syphilis Blood tests No vaccine is available.
pallidum with an infected across the
person. body, nodules. Prevention- usage
of condoms and
completely avoiding
sexual intercourse with
infected persons.
Ceftriaxone (pathogen
is resistant to most
Discharge of other drugs).
Sexual
white thick fluid Gram No vaccine is available.
Neisseria intercourse
Gonorrhoea from urethra, staining, PCR Prevention- usage
gonorrhoeae with an infected
pain during based testing of condoms and
person.
urination. completely avoiding
sexual intercourse with
infected persons.
TRY IT YOURSELF
1. Anomaly in which chromosome causes Down’s syndrome?
2. Name any two sex-chromosome related disorders
3. What is the causative organism of tuberculosis?
4. Name a few antibiotic drugs.
5. Name any one acquired disease for which a vaccine is not available.
6. Roundworm disease is an STD (True/False).

8. Cancer
y Cancer is a major cause of death across the globe.
y It can both be acquired or hereditary.
y It is generally caused due to mutation in genes coding for cell division linked proteins.
y Cancer cells divide uncontrollably.
y They derive their nutrition from the body itself.
y Tumors/Neoplasm
○ Neoplasm means new growth.
○ Abnormal growth of tissue is termed as a tumor.
○ Tumors are of two types- malignant or benign.
○ The benign tumors do not spread and are generally covered by a capsule. They are non-invasive
and thus non-cancerous. They grow slower than malignant tumors. The cells in benign tumors are
more differentiated than the ones in malignant tumors.
○ Benign tumors are generally non-fatal. Some benign tumors do not require treatment.
○ Malignant means harmful.
○ Cells from malignant tumors delocalize and form new tumors where they settle again. This is called
metastasis. They divide faster than benign tumors.
○ Such tumors are invasive and cancerous. They do not have a capsule around them.
○ They are fatal if left untreated.
DID YOU KNOW
y Most animal cells exhibit a property called contact inhibition. They stop dividing
when they encounter a surface on a particular side.
? y Cancerous cells do not exhibit this property.
y Normal animal cells are capable of a certain number of cell divisions i.e. a cell will
divide x number of times and after x divisions it will not enter the cell cycle again.
y Cancer cells are generally capable of infinite number of cell divisions.

y Carcinogens
There are various factors that may lead to a normal cell becoming a cancerous cells. Agents that are
responsible for the same are called carcinogens.
Factors causing cancer-
y Physical agents-
○ UV radiation, X-rays etc. Radiation leads to DNA damage and a mutation caused may be cancerous.
○ Kangri- It is a pot filled with embers kept under the clothing by Kashmiri people to keep warm. The
constant exposure to heat causes cancers in some cases.
○ It is said that extremely sharp teeth can cause cancer in the tongue. In general, constant friction
can cause cancer.
y Chemical agents-
○ They may be carcinogenic due to various reasons. They can create oxidative stress or be
analogous to bases of the DNA and get incorporated in the DNA itself and cause mutations. Some
are intercalating agents E.g. Benzo[a]pyrene, Ethidium bromide are intercalating agents.
○ Carcinogens in cigarette smoke- Polycyclic aromatic hydrocarbons like benzopyrene, acrolein,
nitrosamines etc.
○ Artificial sweeteners, asbestos, some pesticides can also be carcinogenic.
y Biological agents-
○ Estrogen imbalance can cause breast cancer.
○ Some viruses can induce cancer in humans. E.g. Hepatitis B virus, Epstein Barr virus, Human
Papilloma virus etc.
○ Helicobacter pylori infections can increase the risk of some cancers in the colon.
y Carcinogens and organs-
Carcinogens Affected Organs
Soot Skin and lungs
Cigarette smoke Lungs
Coal tar Skin and lungs
Aflatoxin Liver
Cadmium oxide Prostate gland
Mustard gas Lungs
Asbestos Lungs
Nickel and Chromium compounds Lungs, Larynx
Vinyl chloride Liver
Arsenic Urinary bladder, lung, skin

Types of cancer
y Carcinoma
○ This type of tumor originates from the skin/epithelial tissue.
○ It is the most common kind of tumor. (85% cases of cancer are carcinomas).
○ Oral cancer is men and uterine cancer in females is more common in India.
Examples-
○ Brain carcinoma
○ Oral carcinoma
○ Gastric carcinoma
○ Colon carcinoma
○ Lung carcinoma
○ Cervical carcinoma
○ Adeno carcinoma (gland)
○ Breast carcinoma
y Sarcoma
○ It is a tumor of mesenchymal origin.
○ The forms 1 % of the instances of cancer.
Examples-
○ Bone cancer- Osteosarcoma
○ Muscle cancer- Myosarcoma
○ Lymph node cancer- Lymphosarcoma.
y Leukaemia
○ This is the cancer of white blood cells (WBCs).
○ It is the most common cancer in children (Note- 90% cases of leukemia are reported in adults).
○ It is reported more in developed countries.
y Mechanisms
○ Though cancer is one of the most complex phenomena of biology, some basic mechanisms can
be understood.
○ Some genes are ‘proto-oncogenes’. They code for proteins which may be cell cycle regulators etc.
○ When these genes are subjected to mutation, they may become ‘oncogenes’. After mutation/s, the
function of the proto-oncogene is disrupted. Thus it may stop producing a protein that regulates the
cell cycle or may start up-regulating the production of a protein that promotes cell division.
○ Thus mutation in a tumor suppressor gene can cause unchecked growth of tumors.
○ Some cancers are also caused due to down-regulation of DNA repair proteins. Thus the DNA
damaged is not repaired properly and may lead to cancer.
Note- Not all mutations are carcinogenic.
y Diagnosis
It can be on the basis of-
○ Detection of the abnormal cells or cancerous cell in blood.
○ Detection of the tumor markers in blood. Most tumor markers are tumor antigens which can be
detected in blood or urine or tissue samples.
○ Monoclonal antibodies against known cancer antigens.
○ X-Rays, CT scans, MRI scans. Mammography is the X-Ray technique used to detect breast cancer.
○ Biopsy (tissue examination can be carried out to determine the condition of tissue.
○ Pap smear is used for cervical cancer.
y Treatment
There are various approaches for treatment
○ Surgery to remove cancerous tissue or lymph nodes.
○ Radiation like Cobalt-60 therapy, X-rays are used to destroy rapidly dividing cells.
○ Chemotherapy (use of chemicals to treat the disease).
○ Some drugs inhibit DNA synthesis and thereby affect the newly growing cells.
Example-
○ Vincristine a compound from Madagascar periwinkle or Cantharanthus roseus and similarly
Vinblastine from the same plant.
○ Immunotherapy by using monoclonal antibodies.
○ Some new approaches rely on using the immune system of the body by stimulating it in innovative
ways.
It should be noted that a combination of surgery, radiation and chemotherapy are used. Very rarely will
isolated therapies be preferred.

DID YOU KNOW


Prions and prion diseases
y A prion is a protein that can fold in multiple, structurally distinct ways, at least one

?
of which is transmissible to other prion proteins.
y Consider a protein X which is a prion. When it comes in contact with other molecules
of protein X it causes them to misfold. The misfolded proteins do not perform the
function they are supposed to. Additionally these misfolded molecules aggregate
forming ‘amyloids’.
y This leads to disorders called prion diseases. E.g. Mad cow disease, Kuru etc.

TRY IT YOURSELF
1. Symptom of diphtheria is
(A) Suffocation (B) Fear of water (C) Gum bleeding (D) Stomach ache

9. General Preventive Measures for Diseases


y Maintenance of hygiene is very important. It is essential to keep the body clean, make best possible
attempts to purify drinking water and eat non-contaminated food. One must also keep once residence
and workspace clean. Garbage should be thrown in an appropriate manner and at an appropriate place.
y Civic bodies must provide clean drinking water and sanitation.
y One must undergo regular health check-ups. It is important to not ignore any symptoms of illness.
y The civic body must carry out inspections for stagnant water, waste disposal etc.
y Gambusia fish should be reared in ponds.
y Vaccination schedules should be followed.
y Isolations, curfews should be implemented when necessary.
y Health awareness, awareness about STDs and their preventive measures should be encouraged.
y Smoking, excess consumption of alcohol and drugs (narcotics etc.) should be avoided.
y The society as a whole should try to help those suffering from diseases rather than shun them. Sound
mental health is also important for leading a healthy life.
y Diet should be proper.
y Every person in the society should make attempts to reduce air, water sound pollution.
y The civic bodies should take strict action against the individuals/corporations following any practices
that may harm the health of the community.
y It should be very clearly noted that 'Prevention is always better than Cure'.

10. Mental Health


y Definition of Mental health
○ Just like the physical aspects of the body, the psychological ones also play an important role in the
well-being of an individual.
○ It is the level of psychological well-being of an individual.
○ Absence of known psychological disorders is one of the criteria of being psychologically healthy.
y Mental illnesses
It is a behavioral pattern that causes suffering or disability.
y Symptoms include-
○ Depression
○ Insomnia (lack of sleep) or Hypersomnia excessive sleeping
○ Compulsive actions
○ Feeling of hopelessness
○ Suicidal thoughts
○ Severe phobias/fears not within reason
○ Loss of memory
○ Behavior that is detrimental to one’s life and property
○ Anorexia (eating very less food)
○ Delusions (false beliefs)
○ Hallucinations (perceiving/sensing without external stimulus)
○ Social dysfunction.
Summary
y Health is a state of complete physical, mental and social well-being, and not merely an absence of
disease or infirmity (W.H.O – 1948).
y Disease is defined as a structural or functional abnormality in an organism which impairs the normal
functioning of its mind and/or body.
y Pathogens are disease causing organisms. E.g. Mycobacterium tuberculosis which causes TB.
y Humans have a highly evolved and complex immune system.
y There two arms of the immune system namely- The innate immune system and the Adaptive immune
system.
y The innate immune system is not pathogen specific. It serves as an infection prevention + containment
+ attack system which is in place to check the multiplication of the pathogen until the adaptive immune
system is active.
y The adaptive immune response is pathogen specific. It is highly effective.
y The adaptive immune system is of two major types- Cell mediated and Humoral immune system.
y The T cells are the major enforcers of cell mediated immunity.
y The antibody secreting B cells are the major enforcers of humoral immunity.
y Antibodies are proteins (immunoglobulins). They bind to antigens.
y There are 5 major types of antibodies- IgA, IgM, IgD, IgG, IgE (M A D G E).
y Adaptive immune response also has mechanisms for ‘memory’.
y The immune cells are trained to not recognize antigens present on self cells as foreign antigens.
y Error in the above (in)ability may lead to auto-immune disorder.
y Vaccination aims to introduce weaken pathogens/dead pathogens/components of pathogens in the body
to induce adaptive immune response and formation of memory cells. Thus when the actual pathogen
enter the body, the adaptive immune system is active and functional quickly thereby protecting the
individual from the pathogen.
y Recognition of ‘non self’ may cause problems in tissue grafting.
y Diseases are caused by various agents- protozoa, bacteria, viruses, prions, chemicals, physical factors etc.
y Some diseases are congenital and may be caused due to errors in chromosome segregation.
y Cancer is a disease in which some cells of the body start dividing uncontrollably. This occurs due to
mutation in genes encoding for cell cycle regulation proteins. The non-mutated versions of the genes
are called proto-oncogenes while the mutant ones are called oncogenes.
y The agents which may lead to cancer are called carcinogens.
y Physical agents include UV rays, X-rays, heat etc.
y Biological agents include viruses like Epstein - Barr virus, HPV etc.
y Many chemicals found in cigarette smoke are carcinogenic.
y Cancer can be treated by surgery, chemotherapy and radiation.
y There are various mental illnesses too.
y Compulsive engagement in an activity is termed as addiction. It may interfere with normal life.
y Humans may be addicted to various substances like alcohol, tobacco, opiates, steroids etc.
y In cases of addictions or diseases ‘Prevention is always better than cure

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