what effect does Tay-sachs disease have on the body?
what effect does Tay-sachs disease have on the body?
Tay-Sachs disease is a human genetic disorder.
red spot on the retina of the eye
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 is caused by a defective gene. Genes are located on chromosomes, and serve to direct specific development/processes within the body. The genetic defect in Tay-Sachs disease results in the lack of an enzyme called hexosaminidase A.
''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).