18 Feb. 2015
Tay-Sachs Disease (TSD)
Tay-Sachs disease, acronated as TSD, is a fatal lysosomal storage disease that affects the nervous system of primarily infants. Caused by a buildup of a fatty lipid called gangliosides (GM2), a child will suffer through symptoms such as seizures, blindness, and loss of muscle tone and motor skills until ultimately, the disease causes death. (Board) GM2 needs broken down in order to be discarded of. Hexosaminidase A is the enzyme responsible for catalyzing the reaction and breaking GM2 down. There is no known cure, but research is being conducted and multiple clinical treatments have shown hopeful results. (Learning)
As for the number of people a risk, the general population ...view middle of the document...
Specifically the long arm: q23-q24. This defective gene prohibits the creation of Hex-A. (Tay-Sachs) Knowing the locus of the gene provides a form of treatment that is currently being researched along with many other different types of research being done.
Beginning the discussion of current research requires an understanding of the difficulty that finding a cure or treatment brings. Attempts have been made in the gene therapy field of research. This involves creating vectors to intrude the cells and create the missing Hex-A enzyme. Other means of research include enzyme replacement therapy; a direct injection of Hex-A into the brain which is effective at reducing GM2 in test serum, but not in the brain. (The Cure) Most difficult to overcome is the blood brain barrier. This blood brain barrier is simply a mechanism that separates the brain and central nervous system from harmful chemicals. (Blood) Advancements in the field of research are progressive and groundbreaking every day; it is important to maintain high levels of research in order to find a cure.
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