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Chemical chaperone could open door to treatment of neurological disorder
Date:2/5/2008

An unexpected finding turned out to be a clue leading researchers at Washington University School of Medicine in St. Louis to propose a new treatment approach for Niemann-Pick disease, a rare, deadly neurodegenerative disorder.

To overcome the genetic defect in Niemann-Pick disease, the researchers suggest that chemical compounds could potentially "chaperone" mutant protein molecules through the cell's quality control machinery. And they believe the approach also could be useful for more common diseases such as cystic fibrosis that stem from a similar type of defect.

Their findings are reported in advance online publication in the Journal of Biological Chemistry.

Daniel S. Ory, M.D., associate professor of medicine, and colleagues in the Center for Cardiovascular Research originally began to study Niemann-Pick type C disease because of its link to cholesterol metabolism the genetic abnormality at the root of the disease serves as a tool for investigating how cholesterol moves about in cells.

Niemann-Pick type C, the rarest form of Niemann-Pick disease, usually affects school-aged children, but the disease may occur at any time from early infancy to adulthood. Symptoms may include unsteadiness of gait, clumsiness, slurred speech, learning difficulties, progressive intellectual decline, seizures and tremors. Niemann-Pick type C disease is fatal, and no life-extending treatment exists.

As the result of their latest research, Ory and colleagues want to follow up with an investigation of a different treatment modality than has previously been proposed. Prior avenues of treatment research emphasized using gene therapy to repair the genetic defect, but such an approach is fraught with numerous difficulties. Ory's group believes that Niemann-Pick type C and other diseases like it might be treated more readily with chemical compounds able to compensate for the effect of the disease's underlying genetic mutation. '/>"/>

Contact: Gwen Ericson
ericsong@wustl.edu
314-286-0141
Washington University School of Medicine
Source:Eurekalert  

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