The Brain Enzyme Responsible For Canavan Disease

Canavan disease is a rare but fatal inherited degenerative brain disorder. It mainly affects children of eastern and central European Jewish (Ashkenazi) descent, which includes about 90 percent of the Jews in America. About one in 40 Ashkenazi Jews carries the gene for Canavan disease. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that their child will have Canavan Disease. A carrier screening test is available (more information at http://www.ninds.nih.gov/disorders/canavan/canavan.htm).

Mutations in that single gene lead to the malfunctioning of an important brain enzyme called aspartoacylase. This results in degradation of the myelin sheath that insulates the axons to allow efficient transmission of nerve impulses in the brain. Consequently, the infants carrying these mutations fail to develop, leading to blindness, lack of muscle control, mental retardation and eventually to premature death.

Ron Viola and colleagues at the University of Toledo are reporting the isolation and purification of this enzyme in the May issue of Biochemistry. They now have begun to unravel how it functions. 鈥淭hese studies will help us to understand why aspartoacylase malfunctions in patients with this disease,鈥?Viola said. 鈥淭he long term goal of this research is to design improved forms of this enzyme that can be used as a treatment in gene replacement therapy.鈥?

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The Brain Enzyme Responsible For Canavan Disease