Tay Sachs

Question 1

Who discovered Tay Sachs disease

Answer 1

Warren Tay and Bernards Sachs

Question 2

What is the Tay Sachs condition

Answer 2

Also known as GM2 Gangliosidosis, it is the deterioration of nerve cells leading to the loss of mental and pysical abilities

Question 3

How is Tay Sachs inherited

Answer 3

Autosomal recessive allele

Question 4

What does the tay sachs mutation lead to

Answer 4

Mutation of the HEXA gene of Chromosome 15.
Loss of function mutation, hexoamindase A malfunction
Build up of gangliosides leading to cell apoptosis

Question 5

What is affected by the mutation

Answer 5

mutation in the gene coding for the alpha subunit (HEXA). Affects the hydrolysis of gangliosides.

Question 6

Who is affected by the disease

Answer 6

Vast majority of cases among infants.

Onset around 6 months, death by 4

Question 7

Tay Sachs is a lethal disease, why is it prevalent

Answer 7

Mainly due to inbreeding amongst isolated communities.

Asch Jews and Cajuns in Louissiana have higher frequency of cases due to the inbreeding

Question 8

What molecular events lead to the mutation

Answer 8

80% of patients: 4 base pair addition (TATC) in exon 11 of the Hex A gene.
Insertion leads to an early stop codon, which causes the Hex A deficiency

Question 9

Which communities are heavily affected by the disease

Answer 9

Aschkenazi Jews
Cajun Louissiana
French Canadians of quebec

Question 10

What other mutations have been observed

Answer 10

Missence, Microdeletions, gene deletions, nonsense mutations

Question 11

Possible treatment

Answer 11

Decreased occurence due to carrier screening observed in Israel