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 Zchner, 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.
"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," Zchner said.
As evidence mounts for the genetic basis of the disorder's different forms, scientists can begin to develop therapies to specifically target the root causes of CMT in particular families, added senior author Jeffery Vance, M.D., associate director of the Center for Human Genetics and professor of medicine at Duke.
Hallmarks of CMT include weakening of the muscles of the feet and hands that spreads gradually to the legs and arms. The only treatments now available to patients with the disease include ph
Contact: Kendall Morgan
Duke University Medical Center