Dynamin 2 in Charcot-Marie-Tooth disease

Kenji Tanabe, Kohji Takei

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

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, 551A3, did not impair endocytosis, but induced abnormal accumulation of microtubules. Recent evidence has shown that dynamin 2 regulates the dynamic instability of microtubules, and 551A3 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.

Original languageEnglish
Pages (from-to)183-190
Number of pages8
JournalActa medica Okayama
Volume66
Issue number3
Publication statusPublished - Aug 8 2012

Keywords

  • Charcot-Marie-Tooth disease
  • Dynamin
  • Membrane traffic
  • Microtubules
  • Neuropathy

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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