Monday, May 4, 2009

Canavan Disease

In 1931  a genetic disorder call Canavan Disease was discovered. This disease is common amongst Jewish people  but is not very common. This disease has only a 1 out of 4 or 25% chance of occurring. Children that have this disease usually die before the age of four, although some may live to their teens or even twenties. A child with this disease would have symptoms like feeding difficulties, abnormal muscle tone (floppiness or stiffness), an abnormally large, poorly controlled head and mental retardation. Some other symptoms like blindness, paralysis, hearing loss and apathetic may occur. Unfortunately, this disease does not have a cure. This disease can only be inherited as an autosomal recessive trait. With the lack of enzyme  aspartoacylase, build up the N-acetylaspartic acid material which causes the white matter of the brain to detriorate. In order for this to happen one of the chromozones are mutated. I feel that in order to find the cure for this disease that scienctist need to research the process in which the canavan disease is formed.  After researching Canavan Disease I feel empathy toward those young children who have to suffer this horrible disease. To die at the age of four is very sad. 

 

 

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