Tay-Sachs disease (TSD), also called GM2 gangliosidosis, is an uncommon disorder that is genetically inherited, which progressively destroys cells in the central nervous system. The central nervous system consists of the brain and the spinal cord. Because the disorder is autosomal recessive, both parents must have the mutation in the gene in order for the child to be a carrier or have the disease. A child with parents that are both carriers has a 25 percent chance of getting Tay-Sachs and 50 percent chance of being a carrier.
The genetic cause of Tay-Sachs disease is a frameshift mutation. More specifically, mutations in the HEXA gene cause the disease. The HEXA gene is located on chromosome 15. This altered gene causes a waste material to
The genetic cause of Tay-Sachs disease is a frameshift mutation. More specifically, mutations in the HEXA gene cause the disease. The HEXA gene is located on chromosome 15. This altered gene causes a waste material to