Cause of tay-sachs
- Tay-Sachs disease is caused by the lack of or significantly decreased level of the enzyme beta-hexosaminidase. The instructions to make this enzyme are provided by the gene Hexosaminidase A, located in DNA, and its job is to assist in breaking down the lipid (fatty acid) GM2 ganglioside. Mutations on its chromosome 15 can alter its amount. Without the correct levels of Hexosaminidase A to break it down, GM2 ganglioside abnormally accumulates in cells, especially brain nerve cells. This accumulation is toxic and progresses until cell death, which creates the symptoms of Tay-Sachs. (National Human Genome)