CMT 2: Mitochondrial GTPase mitofusin 2 mutations in Korean patients

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Clin Genet. 2007 Mar;71(3):267-72.

Mitochondrial GTPase mitofusin 2 mutations in Korean patients with

Charcot-Marie-Tooth neuropathy type 2.

Cho HJ, Sung D, Kim B, Ki CS.

Department of Laboratory Medicine, Samsung Medical Center,

Sungkyunkwan University School of Medicine, Seoul, Korea.

Charcot-Marie-Tooth disease (CMT) is classified into two types, the

demyelinating (CMT1) and axonal forms (CMT2). CMT2 is further

subdivided by linkage analysis into eight subgroups. Recently,

mutations in the MFN2 gene, which encodes the mitochondrial GTPase

mitofusin 2 (Mfn2) that regulates the mitochondrial network

architecture by fusing the mitochondria, were identified in CMT2A

patients.

This study carried out mutation analysis of the MFN2 gene

in 12 unrelated Korean patients suspected of having CMT2 and

identified four mutations (Arg94Trp, His165Arg, Ser263Pro, and

Ser350Pro). Three mutations were found within the highly conserved

GTPase domain that is essential for the function of Mfn2, and one

mutation (Ser350Pro) was observed between the GTPase domain and the

downstream coiled-coil domain. This suggests that mutations in the

MFN2 gene are an important causative gene underlying Korean patients

with CMT2, and screening for a mutation in the MFN2 gene is strongly

recommended for making a molecular diagnosis of CMT2.