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Scripps Research scientists observe human neurodegenerative disorder in fruit flies
Date:6/24/2009

La Jolla, CA, June 24, 2009 -- A team of scientists from The Scripps Research Institute, Katholeike Universiteit Leuven, and the University of Antwerp, Belgium, among other institutions, has created a genetically modified fruit fly that mimics key features of Charcot-Marie-Tooth disease, a common neurodegenerative disorder that strikes about one out of every 2,500 people in the United States.

As described in an article published in an Early Edition of the journal Proceedings of the National Academy of Sciences the week of June 22, 2009, the work will enable scientists to study the development of the disease in powerful new ways. This work may reveal new information on how the disease develops in humans, and it will provide researchers with a tool for discovering potential new drugs to treat the disease.

Named for the three physicians who first identified the disease in 1886, Charcot-Marie-Tooth is one of the most common inherited neurological disorders in the United States today. When people have this disease, some lose the protective covering on their nerves called myelin. This causes a host of problems that usually emerge in early adulthood, including loss of muscle mass, pain and sensitivity, foot deformations, and walking difficulties.

After the human genome was solved a few years ago, studies revealed that some people with Charcot-Marie-Tooth have mutations in their genes that make a critical human protein called tyrosyl-tRNA synthetase.

This came as a surprise to many scientists, says Paul Schimmel, who is the Ernest and Jean Hahn Professor and Chair of Molecular Biology and Chemistry and is a member of The Skaggs Institute for Chemical Biology at Scripps Research. This protein belongs to a class of molecules involved in one of the most fundamental processes in lifethe culminating steps in gene expression.

Basically, when a gene is expressed, its double-stranded DNA is first transcribed into a corres
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Contact: Keith McKeown
kmckeown@scripps.edu
858-784-8134
Scripps Research Institute
Source:Eurekalert

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