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Scientist who discovered Sly syndrome finds new research path to explore for treating the disease

ST. LOUIS -- Findings by a Saint Louis University research team led by the scientist who discovered Sly Syndrome 32 years ago point to a new direction for research into the rare genetic disorder that can cause bone deformities, vision and hearing loss, mental retardation and death in children.

The research is published in the Proceedings of the National Academy of Sciences Online Early Edition the week of Aug. 9.

"The importance of this research goes far beyond this rare disorder," said William Sly, M.D., chairman of the department of biochemistry and molecular biology at Saint Louis University School of Medicine. "It could potentially provide access to the brain for enzyme therapy in other similar diseases, most of which are more common than Sly Syndrome."

Sly Syndrome occurs in less than one in 250,000 births and is a progressive disorder that ranges in severity to extremely severe - resulting in death - to mild. It is caused by the deficiency of an enzyme called beta-glucuronidase, which leads to an accumulation of protein-sugar molecules known as mucopolysaccharides in many of the body's organs, including the brain. Enzyme replacement therapy - injecting the missing enzyme into the body - holds promise in treating physical problems caused by mucopolysaccharide accumulation in parts of the body other than the brain. The blood-brain barrier prevents the enzyme from reaching the brain.

But Saint Louis University researchers examining an animal model of Sly Syndrome previously had found that enzyme replacement therapy was effective in treating the brain if given while the mice were very young.

"Until now, the reason why the central nervous system of neonates, but not adults, responds to enzyme replacement therapy was unknown," said William A. Banks, M.D., an author of the article and a professor of geriatrics in the department of internal medicine and professor of pharmacological science at Saint Louis University S
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Contact: Nancy Solomon
solomonn@slu.edu
314-977-8017
Saint Louis University
9-Aug-2004


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