Canavan disease

Canavan disease is caused by a mutation in the ASPA gene. This mutation in ASPA causes a deficientcy in an enzyme called aspartoaclyase. Because of this deficientcy of aspartoaclyase the body builds p and enzyme called N-acetylaspartic acid (NAA). This build up of NAA causes the myelin in g the brain (white matter) to be broke down which has numerous effects on the CNS. Som effects include mental retardation, los of motor skills, abnormal muscle tone and many more. Although most people with canavan disease die during chilhood, some rare cases are seen in adults.

The Ashkenazi Jewish population account for 98% of the carriers for 2 of the 3 genes that cause Canavans disease. Theses genes are Y231X and E285A. These genes are only foud in 3% of non Jewish descent. nother gene that causes canavans disease is A305E and is found in 40-60% of non Jewish patiens with canavans disease.

Although there are many benefits from getting personal genetic testing, the possibility of finding out something horrible like being predisposed to canavs disease would be a hard pill to swallow. personally I would love to get tested so that I could take proactive measures against any disease that I'm suceptable to.