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Innovative screening method identifies possible new treatment for fatal childhood disease
Date:4/18/2011

(NEW YORK, NY, April 15, 2011) Many genes that cause human diseases have parallel genes in other organisms, including yeast. Now Columbia University researchers have used an innovative yeast-based screening method to identify a possible treatment for the fatal childhood disease Niemann-Pick C (NP-C). This "exacerbate-reverse" approach can potentially be used to study any disease. The findings were published online in the Journal of Chemical Biology on April 13, 2011.

NP-C is one of a group of genetic diseases called lipid storage disorders. Lipids are fat-like substances (which include fat and cholesterol) that are in all of the body's cells. With NP-C, an inability to metabolize lipids properly causes dangerous levels of lipids to accumulate in the liver, spleen, and brain. NP-C is an autosomal recessive disorder; that is, both parents must have the defective gene for their child to have the disease. Tragically, a couple may have several children before realizing that they are carriers. Some families have lost three out of four children to the disease.

NP-C is a rare but devastating disease. The symptoms, which usually appear between the ages of four and ten, begin with problems with balance and gait, slurred speech, and developmental delays and inevitably progress to severe cognitive decline, dementia, and, ultimately, death. Frustrated families may spend several years seeking a proper diagnosis, when symptoms are misattributed to learning disabilities or "clumsiness."

Stephen L. Sturley, PhD, associate professor of clinical pediatrics, and Andrew B. Munkacsi, PhD, associate research scientist, both at Columbia University Medical Center, and their colleagues have shown that the existing cancer drug SAHA (developed by Columbia researchers) has the potential to improve three diagnostic criteria of NP-C: accumulation of cholesterol, 2) accumulation of sphingolipids, and 3) defective esterification of LDL-derived cholesterol (
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Contact: Ann Rae Jonas
arj2116@columbia.edu
212-305-3900
Columbia University Medical Center
Source:Eurekalert

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