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Scientific article
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Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A

Published inExperimental neurology, vol. 218, no. 2, p. 268-273
Publication date2009
Abstract

Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary peripheral neuropathy. The main axonal form of CMT, CMT2A, preferentially affects peripheral neurons with the longest neurites. CMT2A has been recently linked to mutations in the mitofusin 2 (Mfn2) gene. Mfn2 participates in mitochondrial fusion a process that together with mitochondrial fission, contributes to mitochondrial morphology. Many hypotheses have been postulated to understand how mutations in Mfn2 lead to CMT2A. In this review, we will describe the physiological role of Mfn2, the pathophysiology of CMT2A and current hypotheses about the deleterious role of mutant Mfn2 in neuronal function.

Keywords
  • Animals
  • Charcot-Marie-Tooth Disease/genetics/physiopathology
  • Genetic Predisposition to Disease
  • Humans
  • Membrane Proteins/genetics/metabolism
  • Mitochondria/metabolism
  • Mitochondrial Proteins/genetics/metabolism
  • Mutation
  • Neurons/metabolism/pathology
Citation (ISO format)
CARTONI, Romain, MARTINOU, Jean-Claude. Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. In: Experimental neurology, 2009, vol. 218, n° 2, p. 268–273. doi: 10.1016/j.expneurol.2009.05.003
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Article (Published version)
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ISSN of the journal1090-2430
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