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Jefferson and Michigan scientists identify gene defect behind muscle-wasting disease

Scientists at Jefferson Medical College and the University of Michigan have uncovered a gene defect responsible for a muscle-wasting, neurodegenerative disease in mice known as mnd2. Their results may provide insights into the molecular origins of other such diseases in humans, including Parkinson's disease.

In an online report on October 8 in the journal Nature, the researchers, led by Emad Alnemri, Ph.D., at Jefferson Medical College of Thomas Jefferson University in Philadelphia, and Miriam Meisler, Ph.D., at the University of Michigan in Ann Arbor, show that a mutation in a single amino acid in the protein Omi/HtrA2 is enough to cause the neuromuscular disease. In mnd2 mice, the amino acid serine is changed to cysteine.

Michigan senior research associate Julie Jones, a member of Dr. Meisler's research team, discovered the mnd2 mouse model, an inherited neurological disease, in 1990. mnd2 is characterized by an abnormal gait, muscle wasting and early death. To identify the guilty gene, Dr. Meisler's laboratory used a technique called positional cloning, eventually narrowing the mutation to a small region containing six candidate genes on chromosome 6. To find the specific genetic defect, they determined the nucleotide sequence of these candidate genes and discovered that the mnd2 defect was caused by a "point" mutation in the Omi gene.

Dr. Alnemri had been studying the Omi/HtrA2 protease an enzyme that cleaves proteins and its role in programmed cell death. When he located the Omi gene on chromosome 2p13.1 which happened to correspond to mouse chromosome 6, where the mnd2 locus is found he suspected that a mutation in the Omi/HtrA2 gene could be behind the mnd2 disease. According to Dr. Alnemri, who is professor of microbiology and immunology at Jefferson Medical College and a member of Jefferson's Kimmel Cancer Center, Omi/HtrA2 is present in the mitochondria, which generates energy in the cell. Omi regulates apoptosis, or programmed cell
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Contact: Steve Benowitz
steven.benowitz@jefferson.edu
215-955-5291
Thomas Jefferson University
10-Oct-2003


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