%0 Journal Article
%T Dynamin 2 in Charcot-Marie-Tooth Disease
%A Tanabe
%A Kenji
%A Takei
%A Kohji
%J Acta Medica Okayama
%D 2012
%I Okayama University Medical School
%X Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton. A large GTPase, dynamin, which is known as a fission protein for endocytic vesicles, was identified as a gene responsible for dominant-intermediate CMT type 2B (DI-CMT2B). Of these mutants, the PH domain, which is required for interaction with phosphoinositides, was mutated in several families. Interestingly, the expression of a deletion mutant, 551жд3, did not impair endocytosis, but induced abnormal accumulation of microtubules. Recent evidence has shown that dynamin 2 regulates the dynamic instability of microtubules, and 551жд3 lacks this function. We propose a model for the regulation of the dynamic instability of microtubules by dynamin 2 and discuss the relationship between dynamin 2 and CMT.
%K neuropathy
%K Charcot-Marie-Tooth disease
%K membrane traffic
%K dynamin
%K microtubules
%U http://ousar.lib.okayama-u.ac.jp/file/48557/66_3_183.pdf