TAY SACH’S DISEASE, A GENETIC MUTATION: MECHANISM OF ONSET OF DISEASE AND PHYNOTYPIC CHARACTERIZATION

Sikander Ali*, Maleeha Hanif and Jawad Siddique

ABSTRACT

Tay sach disease is a genetic disorder. It is a storage disease in which due to mutation in gene present on chromosome no 15 called HexA gene. This gene is responsible for production of hexoaminidase enzyme. This enzyme help in lipid metabolism present in cell. Due to lack of this enzyme the GM2 ganglioside does not metabolize thus ultimately store into the brain neurons lead to the accumulation of lipids in brain and cause tay sach disease. This disease is fatal as brain stop working and receiving and transporting signals thus death occur. The disease is simply diagnose by blood test in which level of hexoaminidase enzyme is being checked in the blood, children having this disease can be identify by cherry red spot in their eyes while carrier testing is also done in newly married couples to prevent the risks of pregnancies of tay sach diseased baby. As there is no permanent prevention or treatment for this disease nut the ways can be adopt to make the lives of patients comfortable such as massage therapy to make their muscles relax , treating with feed tubes to those who have lost the ability of swallowing, providing them wheel chairs and walkers to facilitate in mobility. Completely loss of enzyme leads to the severe condition called sandhoff disease in which a patient cannot survive for more time.

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