TAY-SACHS DISEASE The disease is named after Warren Tay (1843-1927), a British ophthalmologist, and Bernard Sachs, a New York neurologist. Warren Tay discovered a patient with a cherry-red spot on the retina of the eye that became a clear sign of Tay-sachs disease. Bernars Sachs later described the cellular changes in Tay-Sachs disease. Tay-Sachs disease is a rare autosomal recessive genetic disorder that gradually destroys nerve cells in the brain and spinal cord. Mutation in the HEXA gene on chromosome 15 causes Tay-Sachs disease. The HEXA gene gives instructions to produce part of an enzyme called β-hexosaminidase A, this enzyme plays a vital role in the brain and spinal cord. The enzyme is compromised on an alpha and beta subunit. The HEXA gene specifically encodes the portion called the alpha subunit of the β-hexosaminidase enzyme. Both α and β subunits are required for the proper functioning and binding of β-hexosaminidase. β-hexosaminidase is found in lysosomes, an organelle that normally breaks down molecules into smaller monomers that the cell can use and also serves as a recycling center. Each organelle within the cell has a different function. Each of their functions is handled by multiple proteins made up of multiple genes. Inside the lysosome, β-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. β-hexosaminidase binds to another molecule called GM2 activator protein to form a GM2 ganglioside complex. With all parts functioning, β-hexosaminidase hydrolyzes the complex. It does this by removing a residue called β 1-4-linked N-acetylhexosamine. After completion of this process the GM2 complex is converted into GM3 ganglioside. The α subunit is very essential in the degree… middle of the paper… it is just better to make the patient more comfortable by providing proper nutrition and hydration. . Researchers are exploring several options to find a cure. They have developed a mouse model but the usefulness is limited because mice possess a minor alternative pathway for GM2 ganglioside degradation (Yamanaka et.al, 1994). They are working to find an enzyme replacement therapy to provide the Hex-A that is missing in children with Tay-Sachs. The effectiveness of this treatment is extremely limited because the extent of neurological damage before birth is not known. Bone marrow transplant has been unsuccessful due to slowing of central nervous system damage in patients with the disease. Researchers are also working on a gene therapy in which a normal gene is transferred into cells to replace an abnormal gene – great promise for future Tay-Sachs patients.