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

Exp Neurol. 2009 Aug;218(2):268-73. doi: 10.1016/j.expneurol.2009.05.003. Epub 2009 May 8.


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.

Publication types

  • Review

MeSH terms

  • Animals
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology*
  • GTP Phosphohydrolases
  • Genetic Predisposition to Disease
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mitochondria / metabolism*
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proteins / metabolism
  • Mutation*
  • Neurons / metabolism*
  • Neurons / pathology


  • Membrane Proteins
  • Mitochondrial Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human