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 - 2012

Fingerprint

Dynamin II
Charcot-Marie-Tooth Disease
Microtubules
Genes
Dynamins
Dominant Genes
Transport Vesicles
Intracellular Membranes
GTP Phosphohydrolases
Phosphatidylinositols
Endocytosis
Cytoskeleton
Membranes
Mutation
Proteins

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Dynamin 2 in Charcot-Marie-Tooth disease. / Tanabe, Kenji; Takei, Kohji.

In: Acta Medica Okayama, Vol. 66, No. 3, 2012, p. 183-190.

Research output: Contribution to journalArticle

Tanabe, K & Takei, K 2012, 'Dynamin 2 in Charcot-Marie-Tooth disease', Acta Medica Okayama, vol. 66, no. 3, pp. 183-190.
Tanabe, Kenji ; Takei, Kohji. / Dynamin 2 in Charcot-Marie-Tooth disease. In: Acta Medica Okayama. 2012 ; Vol. 66, No. 3. pp. 183-190.
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