田邊　賢司    Department   Research Institutes and Facilities, Research Institutes and Facilities    Position   Associate Professor
Article types	Review article
Language	English
Peer review	Peer reviewed
Title	Dynamin 2 in charcot-marie-tooth disease.
Journal	Formal name：Acta medica Okayama
Volume, Issue, Page	66,pp.183-190
Author and coauthor	Tanabe K. and Takei K.
Authorship	Lead author
Publication date	2012
Summary	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.