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Duke researchers identify cause of Charcot-Marie-Tooth disease: May 28.


Neurogeneticists at Duke University's Center for Human Genetics Human genetics

A discipline concerned with genetically determined resemblances and differences among human beings. Technological advances in the visualization of human chromosomes have shown that abnormalities of chromosome number or structure are surprisingly
 and their international colleagues have identified an abnormality in mitochondria, which produce energy for cells and fuels the nerves requited for muscle control, as the cause of Charcot-Marie-Tooth disease (CMT CMT Certified Medical Transcriptionist.

CMT
abbr.
Certified Medical Transcriptionist



CMT

California mastitis test.
).

There is no cure for CMT, one of the most common inherited disorders, affecting about 150,000 Americans. Symptoms include weakening of the feet and hands that gradually spreads to the arms and legs. The only treatments for the degenerative nerve disorder are physical therapy and moderate activity to maintain muscle strength. People with CMT often have to use leg braces, and some become wheelchair-dependent.

Researchers say the mitochondria finding could help in developing treatments for CMT and increase scientists' understanding of diseases affecting the peripheral nervous system peripheral nervous system: see nervous system. , according to a Duke University press release.

The Duke study published in the journal Nature Genetics, included seven Families with a form of the disorder called CMT type 2A. Scientists found that the families had defects in a gene called mitofusin 2, which is critical in mitochondrial mitochondrial

pertaining to mitochondria.


mitochondrial RNAs
a unique set of tRNAs, mRNAs, rRNAs, transcribed from mitochondrial DNA by a mitochondrial-specific RNA polymerase, that account for about 4% of the total cell RNA that
 movement. Using gene therapy to restore lost gene function in people with CMT might serve as an effective treatment, the researchers suggest.

For more information, visit the Muscular Dystrophy Association The Muscular Dystrophy Association (MDA) is an organization founded in 1950 which combats muscular dystrophy and diseases of the nervous system and muscular system in general by funding research, providing medical and community services, and educating health professionals  Web site.
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Title Annotation:PT Bulletin Digest
Publication:Physical Therapy
Article Type:Brief Article
Geographic Code:1USA
Date:Aug 1, 2004
Words:205
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