Tay Sachs Disease

Jeetayu Biswas AP Bio Block 1

Overview of TSD
Also known as:
GM2 Gangliosidosis
Gangliosides are fats needed for proper development of the nervous system

Hexosamindase A Deficiency
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)