title: Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam-Gu, Seoul, Korea.
authors.forename: H-J
authors.initials: HJ
authors.lastname: Cho
authors.forename: D H
authors.initials: DH
authors.lastname: Sung
authors.forename: B J
authors.initials: BJ
authors.lastname: Kim
authors.forename: C-S
authors.initials: CS
authors.lastname: Ki
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human