Tuesday, May 5, 2009
Canavan Disease
The very fatal Canavan Disease is a tragic genetic disorder that effects approxiamtely ninety percent of all people of the Jewish religion in Ashkenazi. Symptoms include abnormal posture with flexed arm and straight legs, nasal regurgitation, blindness, feeding problems, increasing head size, had lag and lack of head control, poor muscle tone especially in the neck, reflux with vomiting, seisures, mental retardation, swallowing dificulties, and an abnormally high amount of ear infections. There is no cure and no treatment to this disease. Personalized treatments aim to ease the symptoms. It is a very unfortuante occurance that one it 6,400 new borns are carriers of the disease. The population of Ashkenazi is most vulnerable to the disease. The cause of this disease it because of two specific mutations of the aspartoacylase gene. These mutations are mutations on codon 285 and on codon 231 on the aspartoacylase gene. This is an autosomnal recessive gene so a person would need to have the genes on both chromosomes of the 17th pair. It also means this is not a sexually linked trait. All in all, this is a disease that nobody should wish upon another.
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