Dynamin 2 in Charcot-Marie-Tooth Disease

作者：Tanabe Kenji; Takei Kohji^*

来源：Acta Medica Okayama, 2012, 66(3): 183-190.

• neuropathy
• Charcot-Marie-Tooth disease
• membrane traffic
• dynamin
• microtubules

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, 55I Delta 3, did not impair endocytosis, but induced abnormal accumulation of microtubules. Recent evidence has shown that dynamin 2 regulates the dynamic instability of microtubules, and 551 Delta 3 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.

• 出版日期2012-6