A gene that plays many fundamental roles in cells throughout the body has, for the first time, been implicated in human disease, according to researchers at the Duke Center for Human Genetics. A defect in the ubiquitous gene dynamin 2 underlies one form of the prevalent, familial nerve disorder, known as Charcot-Marie-Tooth disease (CMT). The disorder affects approximately 1 in every 2,500 people, making it one of the most common of all hereditary disorders, said the researchers.
Their findings also reveal a previously unknown link between CMT and a deficiency of white blood cells, suggesting that defects in dynamin 2 might underlie both conditions, the researchers reported in the Jan. 30, 2005, issue of Nature Genetics.
The discovery -- together with earlier findings of genes that can also cause the genetically heterogeneous and debilitating disease -- is providing new insight into the nervous system, said first author of the study Stephan Züchner, M.D., assistant professor of psychiatry and member of the Duke Center for Human Genetics. Also, he said, the findings bring a better understanding of the types of defects that might, in general, lead to peripheral nerve disorders.
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