GM2 gangliosidoses Essays

  • What´s Tay-Sachs Disease?

    1763 Words  | 4 Pages

    death of the affected. The disease is found in a mutation on the HEXA gene. The HEXA gene makes beta-Hexosaminidase A, an enzyme that is necessary for proper spinal cord and brain development. This works to break down GM2 ganglioside, a fatty substance. When a mutation occurs here, the GM2 ganglioside can’t be broken down, accumulating to harmful levels in neurons of the brain and spinal cord, which results in the damaging symptoms of the disease. There are a few forms of the disease, but the most common