Tay-Sachs Disease

By: Cordell LaBrie & Bryan Vega

Chromosomes, Genes, & Proteins that affects Body

Over 120 mutations, that are causing Tay-Sachs is being found in the HEXA gene.
A change in the number of chromosomes can cause problems with growth,
development, and functions of the bodys systems.
Tay-Sachs disease happens when the body lacks what is called
Hexosaminidase. Its a protein that helps break down chemicals in the nerve
tissue called gangliosides.

Genetic Disorder Affecting Body

Babies:
- They do not gain mtor or any mental skills.
- At the age of 5yrs. old death or paralysis can occur.
Adults:
- Life is very risky for the ones who are affected by Tay-Sachs.
- Negative effects due to symptoms can make someone incompetent, not
allowing them to life normally.

Organs that are affected

-Tay-Sachs disease is a progressive fatal genetic condition that affects the nerve cells in
the brain
-It is the severe form of group of disorders caused by Hexosaminidase A Deficiency

Symptoms
-

Deafness
blindness
decreased muscle tone
increased startle response
paralysis or loss of muscle function
seizures
delayed mental and social development
slow growth
muscle weakness
cramps
slurred speech
behavior changes

Statistical Data
-Tay Sachs carriers are found mostly in Eastern European Jewish
-In the United States today, approximately one in every 27 Jews is a Tay Sachs carrier
-The carrier rate is about one in 250

Punnett Square
Say both parents are carriers and their child inherits the Hex-A gene from each of them
they will have the disease. Each child will have a %25 chance of having the disease
and a %50 chance of being a carrier of Tay-Sachs.
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Interesting Facts
-

It is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2
build up in tissues and nerve cells in the brain

Caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic
fatty materials known as gangliosides

Infants with Tay Sachs disease appear to develop normally for the first few months of life

Persons with Tay Sachs also have cherry red spots in their eyes

The incidence of Tay Sachs disease is particularly high among people of Eastern Europe and Ashkenazi Jewish
descent

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