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Gene Defect Linked to Familial Nerve Disorder

Mutation may cause Charcot-Marie-Tooth disease

MONDAY, Jan. 31, 2005 (HealthDayNews) -- A defect in a gene called dynamin 2 causes one form of the inherited nerve disorder Charcot-Marie-Tooth (CMT) disease, according to a new study.

Researchers at Duke University's Center for Human Genetics, say they have also identified a previously unknown association between CMT and a deficiency of white blood cells. This suggests defects in dynamin 2 may be linked to both conditions.

Dynamin 2 fulfills a number of functions in cells throughout the body, but this is the first time it has been implicated in human disease. The study appears in the Jan. 30 issue of Nature Genetics.

The finding, along with earlier research, provides scientists with new information about the nervous system and may offer a better understanding of the types of genetic defects that sometimes result in peripheral nerve disorders.

"As the function of each new gene comes to light, a picture is emerging about the gene and protein families that underlie different forms of Charcot-Marie-Tooth disease and perhaps other nervous system diseases as well," study first author Dr. Stephan Zuchner, an assistant professor of psychiatry, said in a prepared statement.

CMT is one of the most common hereditary disorders, affected about one in every 2,500 people. Symptoms included weakening of the muscles in the feet and hands linked to a lack of stimulation from the nerves. This weakening eventually spreads to the arms and legs. Physical therapy and moderate activity to maintain muscle strength are the only available treatments for the disease.

More information

The Muscular Dystrophy Association has more about Charcot-Marie-Tooth disease.

SOURCE: Duke University, news release, Jan. 30, 2005
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