Tay Sachs Disease

Tay Sachs disease is an autosomal recessive genetic disorder, which means an individual must have two defected alleles to have the disorder.  If both parents have the gene there is a 25% chance that the offspring may receive the disease. Individuals that exhibit only one allele are carriers of the disorder. They will not be affected by the disease but they have the potential of passing the disorder to their children.

 

This disease is also referred to as a lysosomal storage disorder. A lysosomal storage disorder is caused by genetic enzyme absence in the lysosome, which then the body has problems breaking down certain waste products from the cell. In particular lysosomal storage disorders have problems breaking down the waste in nerve cells.

 

Tay Sachs Disease is the outcome of mutations in the DNA that results in absence of a crucial protein in chromosome 15. Chromosome 15 is responsible for producing a Hexosaminidase A (Hexa A) enzyme.  This enzyme helps to destroy the Ganglioside and GM2 Ganglioside.  Ganglioside is a fatty substance that is found in nerve tissues and these cells helps to develop the nerve tissues. However, without the Hexa A protein destroying the Ganglioside, these proteins accumulate to the point where they start to damage the nerve and brain cells around them, causing the symptoms of Tay Sachs disease.