Okayama University Medical School Acta Medica Okayama 0386-300X 66 3 2012 Dynamin 2 in Charcot-Marie-Tooth Disease 183 190 EN Kenji Tanabe Kohji Takei Review 10.18926/AMO/48557 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, 551Δ3, did not impair endocytosis, but induced abnormal accumulation of microtubules. Recent evidence has shown that dynamin 2 regulates the dynamic instability of microtubules, and 551Δ3 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. No potential conflict of interest relevant to this article was reported.

岡山医学会 Acta Medica Okayama 0030-1558 122 2 2010 ダイナミン2による微小管の動態制御とCharcot-Marie-Tooth病 113 117 EN Kenji Tanabe Kohji Takei No potential conflict of interest relevant to this article was reported.