What´s Tay-Sachs Disease?

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Recommended: Whose family tree could possibly harbor the recessive allele for Tay-Sachs disease

Tay-Sachs Disease Tay-Sachs disease, while incredibly destructive to those it effects, is still a lesser-known issue. With around 16 cases of Tay-Sachs diagnosed each year, few know just how it occurs and what it does. Tay-Sachs is a progressive disease that eradicates nerve cells in the spinal cord and brain, causing paralysis and loss of motor functions. It almost always results in the 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 of these is the one that appears in infants. Identified through a “cherry red spot” in the eyes, Tay-Sachs begins with slowed development and movements. It then progresses into the complete loss of motor skills, and as the infant grows into a child, they experience vision loss, hearing loss, paralysis, and seizures. Those affected with this type of Tay-Sachs rarely survive through childhood. Even rarer forms of Tay-Sachs allow those affected to live into childhood, or even into adulthood, with extremely mild symptoms, such as Ataxia, weakness, and problems like mental illnesses or speaking difficulties. While Tay-Sachs disease is an autosomal recessive type inheritance, it’s most common in Ashkenazi Jewish heritage. Ashkenazi heritage is usually eastern or central European. In the following sections, websites dedicated to the disease will... ... middle of paper ... ...be felt by anyone, and hopefully in the near future, with more research, donations, and recognition in the world, this disease will finally have its cure. Workscited: 1: http://www.medicalnewstoday.com/releases/207446.php 2. http://www.medicalnewstoday.com/releases/162141.php 3: http://0-www.jstor.org.catalog.lib.cmich.edu/stable/3973234 4. http://link.springer.com/article/10.1007%2FBF01561184#page-1

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