Genetics
New Gene for Charcot-Marie-Tooth Disease Involved in Cell Transport
By American Academy of Neurology
Apr 13, 2005, 00:21

Charcot-Marie-Tooth disease (CMT), which affects the peripheral nerves, comes in several forms and is due to mutation in a variety of genes.

Autosomal dominant CMT of the so-called intermediate form has previously been linked to chromosome 19.

In this study, an international team of researchers identified the responsible gene as Dynamin 2 (DNM2), whose protein helps cell membranes fuse together and separate. The mutation, found in several families from North America, Australia, and Belgium, impairs a variety of critical cell transport processes.

In addition, neutropenia, a white blood cell disorder, was found to be inherited along with the disease, which has not been seen in CMT families before. The same protein function that is impaired by the mutation--the ability to bind a high-energy molecule called CTP--is also impaired by other CMT gene mutations, suggesting this may be a central pathway for a large class of peripheral neuropathies.

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