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Tay Sachs Paper (With Outline)

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I. What is Tay-Sachs..?

A. Simple Facts

1. Named after Warren Tay and Bernard Sachs

2. Involves protein ganglioside GM2 and enzyme Hex-A

3. Gene mutation located in Chromosome 15

B. Cause

1. Cause by lack of protein enzyme Hex-A

2. Inherited from both parents

3. Ganglioside GM2 accumulates abnormally in the brain

C. Victims

1.Found in the Ashkenazi Jews

a. 1 out of 27 Jews is affected

2. Found in French-Canadians

a. 1 out of 250 people affected

3. Found in Louisiana Cajuns

a. 1 out of 27 people affected

D. How to diagnose it

1. Diagnosis in adults results in blood testing

a. If the Hex-A measurements are high, the test results positive

2. Diagnosis in stages of infancy

a. After 6 or 7 months, the child will have stopped moving or

showing healthy signs in the womb.

II. Tay-Sachs and its outcomes

A. Effects of Tay-Sachs

1. Mental and physical abilities lost

a. Blindness and Deafness

b. Not being able to swallow

c. Paralysis

d. Atrophy of the muscles

e. Central nervous system breaks down

B. The patient after birth

1. Reaching age 3 - 4

a. Nervous system damaged so badly life cannot go on

2. Reaching age 2

a. Child has gone through recurrent seizures

b. Mental abilities fade

3. Symptoms

a. Chronic seizures

b. Not being able to move

c. Coordination Loss

e. Red spot in the back of the eye

4. Death

a. Death occurs by age 5

III. Is there only one case?

A. Classical Tay-Sachs

1. Occurs in infants

B. Juvenile Tay-Sachs

1. Occurs in people with Hex-A mutation in bloodstream

2. Develop symptoms of classical Tay-Sachs from ages 2-5

3. Die by age 15

C. Chronic Tay-Sachs

1. Start from ages 2-5

2. Effects very very mild

a. Vision, Hearing, and Mental ability exists

3. Slurred speech

and muscle problems may occur

4. Mental illness may occur

D. Adults with Tay-Sach mutation

1. Usually same for chronic, except occurring

much later

IV. Are there any cures?

A. No cures have been created

1. Cures are being researched worldwide

a. Possible Hex-A replacement

b. Bone marrow transplant

Named after Warren Tay and Bernard Sachs, this disease is a metabolic disorder

that involves a lipid known as ganglioside GM2 to develop differently in the cells of the

brain. More commonly accumulating in nerve cells, Tay-Sachs is caused by lack of a

crucial protein enzyme called hexosaminidase A, which is also known as "Hex-A.",

which is found in lysosomes: organelles which break down large amounts of molecules so

as to recycle them. Hex-B usually helps break down ganglioside GM2, but the people

infected either have little or none of it in their systems. That allows the ganglioside GM2

to overly produce and go out of control. Tay-Sachs is recessive, and caused by the

mutations in both of the allelles belonging to Chromosome 15. During Tay-Sachs, Hex-

A is disfunctional and not working at all. With the absence of Hex A, the fatty substance

ganglioside GM2 accumulate abnormally inside of the brain. It keeps reproducing, and

with so much of the substance, the brain cells are badly damaged. Tay-Sachs is inherited

from both parents. A blood test is the only way to find out if you have Tay-Sachs. If It is

also referred to as "carrier screening". The gene gets passed on from generation to

generation. It can stay hidden for decades in a family's genes, without the knowledge of




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