Dynamin 2 in Charcot-Marie-Tooth disease.
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.
Department of Neuroscience, Okayama University Graduate School for Medicine, Dentistry and Pharmaceutical Sciences, Japan. kohji@md.okayama-u.ac.jp
Kenji
K
Tanabe
Kohji
K
Takei
D002607:Charcot-Marie-Tooth Disease / Q000209:etiology*; D003599:Cytoskeleton / Q000502:physiology; D034285:Dynamin II / Q000502:physiology*; D004705:Endocytosis; D006801:Humans; D008870:Microtubules / Q000502:physiology
D034285:Dynamin II