Type 2A research - Duke abstract

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From Nature Genetics. 2004 Apr 4

Mutations in the mitochondrial GTPase mitofusin 2 cause

Charcot-Marie-Tooth neuropathy type 2A.

Zuchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J,

Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y,

Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone

A, Battologlu E, Polyakov AV, Timmerman V, Schroder JM, Vance JM.

[1] Department of Neuropathology, University Hospital, RWTH Aachen,

Pauwelsstrasse 30, 52074 Aachen, Germany. [2] Center for Human Genetics,

Duke University Medical Center, 595 LaSalle Street, Durham, North

Carolina 27710, USA.

We report missense mutations in the mitochondrial fusion protein

mitofusin 2 (MFN2) in seven large pedigrees affected with

Charcot-Marie-Tooth neuropathy type 2A (CMT2A). Although a mutation in

kinesin family member 1B-beta (KIF1B) was associated with CMT2A in a

single Japanese family, we found no mutations in KIF1B in these seven

families. Because these families include all published pedigrees with

CMT2A and are ethnically diverse, we conclude that the primary gene

mutated in CMT2A is MFN2.