red spot on the retina of the eye
what effect does Tay-sachs disease have on the body?
what effect does Tay-sachs disease have on the body?
Multiple mutations are responsible for Tay Sachs Disease. For example, Tay Sachs in the french Canadian population may be due to a different mutation then people of eastern European Jewish descent with Tay Sachs. any mutation that causes the absence of the enzyme Hexosamindase (Hex-A) is a mutation that can cause a Tay Sachs genotype/phenotype within an individual
Tay-Sachs disease is a human genetic disorder.
A person with tay sachs can live a healthy life but still battles the many limitations of Tay sachs disease. Depending on the type of tay sachs, Classic, Juvenile onset, and Late Onset depends how healthy a life a person with tay sachs disease.
About 16 cases of Tay-Sachs disease are diagnosed each year.
tay-sachs disease
There is no evidence that shows that tay-sachs is a sex-linked trait.
There is no evidence that shows that tay-sachs is a sex-linked trait.
''Tay-Sachs'' was named after Warren Tay, an ophthalmologist who discovered the occurring red spot in the retina in 1881, and Bernard Sachs, who described the cellular changes related to this disease in 1887.
Tay-Sachs disease is abbreviated to TSD and is also known as GM2 gangliosidosis or Hexosaminidase A deficiency.
A mutation of the HEX A gene of chromosome 15 causes Tay-Sachs disease. As a result, the protein hexosaminidase A is not formed properly and GM2 ganglioside, the lipid normally broken down by hexosaminidase A, accumulates to toxic levels (especially in the brain).