CMT 2A: Role of mitofusin 2 mutations in the physiopathology

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Exp Neurol. 2009 May 7.

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

disease type 2A.

Cartoni R, ou JC.

Departement of cell biology, 30 quai Ernest Ansermet 1211 Genève 4.

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.