Tay Sachs Disease

Jeetayu Biswas
AP Bio Block 1

Overview of TSD

Also known as:

GM2 Gangliosidosis

Hexosamindase A Deficiency

Gangliosides are fats needed for proper

development of the nervous system
Hexosamindase is an enzyme normally
found in lysosomes to break down GM2
Gangliosides

Genetic disorder = missing enzyme =

buildup of fats in the nervous system

Cause of Tay Sachs

Autosomal Recessive

Mutation of the HexA gene on

chromosome 15
If both parents are heterozygous, then
they have a chance of passing the
disease onto their children

Has a strong presence with Ashkenazi

Jewish families

Symptoms

Once a child with TSD is born, they

begin a buildup of gangliosides in
their nerves and around the brain

Symptoms usually start at 6 months

Inability to smile, crawl, turnover, or reach

with their hands
As the disease progresses, they become
deaf, unable to swallow, and paralyzed

Children with TSD usually die by the

age of 5

Genetic Screening for TSD

Males are the first to be tested

A simple enzyme assay is used to

determine their hexosaminidase A levels
Two normal genes = high enzyme level
Abnormal (heterozygous) = low level

Mothers are only tested if the

potential father is heterozygous

If the mother is also heterozygous then

the fetus must be tested

Fetal Testing for TSD

Tay Sachs usually cripples the child

before killing them

Most fetuses that test positive are

aborted, knowing that there is a 100%
mortality rate

Two tests may be performed

Amniocentesis
Chorionic villus sampling (CVS)

Amniocentesis

Doctors insert a needle through the

abdominal cavity, and withdraw about
30ml of amniotic fluid

The fluid is separated from fetal cells,

and those cells are cultured
After several weeks there are enough
cells to perform a variety of genetic tests

Reccomended between the 16th and

20th week of pregnancy

Chorionic villus sampling (CVS)