Tay Sachs Disease Research Paper

Tay-Sachs disease is a extraordinary inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most known form of Tay-Sachs disease becomes visible in infancy. Infants that are born with this disorder typically seem normal until they turn 3 to 6 months, when their advancement slows and muscles used for movement weaken. Affected infants aren't able to use their motor skills such as turning over, sitting, and crawling. They also develop an strong startle reaction to loud noises. As the disease advances, children with Tay-Sachs disease get seizures, vision and hearing loss, speaking disability, and paralysis. An eye abnormality called a cherry-red spot, which can be seen and identified with an eye examination, …show more content…
The genetic mutations that make this disease are more common in people that live in Ashkenazi (eastern and central Europe) Jewish heritage than in those with other backgrounds. The mutations responsible for this disease are also seen more in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana. Mutations in the HEXA gene make the Tay-Sachs disease. The HEXA gene makes instructions for making pieces of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is found in lysosomes, which are structures in cells that break down toxic things and act as recycling centers. Inside of lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. Mutations in the HEXA gene stops the activity of beta-hexosaminidase A, which stops the enzyme from breaking down GM2 ganglioside. As a result, this substance builds to toxic levels, mostly in neurons in the brain and spinal cord. Advanced damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms of Tay-Sachs