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Study offers new clues about hereditary spastic paraplegia
Date:7/8/2011

HOUSTON -- (July 8, 2011) -- New research from Rice University and Italy's Eugenio Medea Scientific Institute is yielding clues about hereditary spastic paraplegia (HSP), a group of inherited neurological disorders that affect about 20,000 people in the United States. A study in the July 5 issue of the Proceedings of the National Academy of Sciences offers the first detailed account of the biochemical workings of atlastin, a protein produced by one of the genes linked to HSP.

The primary symptoms of HSP are progressive spasticity and weakness of the leg and hip muscles. This results from the slow degeneration of the nerves that carry signals from the spinal column to the legs, feet and toes. While scientists know that HSP can result from more than two dozen different genetic mutations, they don't know how the mutations cause nerve degeneration.

"We discovered a couple of years ago that atlastin plays a key role in building and maintaining an important internal compartment of healthy cells called the endoplasmic reticulum," said Rice biochemist James McNew, lead co-author of the new study. "HSP is known to primarily affect long nerve cells that can stretch from the lower back all the way to the base of the leg. It appears that atlastin plays a particularly crucial role in maintaining the health of these cells, and we want to know why."

McNew, associate professor of biochemistry and cell biology at Rice, and Andrea Daga, a scientist at the Medea Institute, determined in 2009 that atlastin was one of the rare breed of proteins that can cause membrane fusion.

"Membrane fusion is a fundamental process involved in many cell functions, but only a few proteins can initiate it," McNew said. "Until 2009, we thought all membrane fusion proteins operated in the same basic way. Atlastin was completely different because it's an enzyme that utilizes chemical energy to drive fusion. We really had to start from scratch to determine h
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Contact: Jade Boyd
jadeboyd@rice.edu
713-348-6778
Rice University
Source:Eurekalert  

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