| Mitofusin 2 (MFN2) 유전자 돌연변이가 있는 Charcot-Marie-Tooth 2A 환자들의 임상 및 유전학적 특성 |
| 최병옥, 김상범 박기덕 최경규 오지영a 서범천b 김세훈c 김대성d 임정근e 주인수f
김승민b 선우일남b 윤은경g 정찬구g 이정주h 김용성i 이민철j 정기화g |
| 이화여자대학교 의과대학 신경과학교실, 건국대학교 의과대학 신경과학교실a, 연세대학교 의과대학 신경과학교실b, 병리학교실c,
부산대학교 의과대학 신경과학교실d, 계명대학교 의과대학 신경과학교실e, 아주대학교 의과대학 신경과학교실f,
공주대학교 생명과학과g, |
| Clinical and Genetic Characteristics in Patients of Charcot-Marie-Tooth type 2A with Mitofusin 2 (MFN2) Mutations |
| Byung-Ok Choi, M.D., |
| Department of Neurology, Ewha Womans University College of Medicine, Seoul; Department of Neurology, Konkuk University College of Medicinea, Seoul; Departments of Neurologyb and Pathologyc, Yonsei University College of Medicine, Seoul; Department of Neurology, Pusan National University College of Medicined, Busan; Department of Neurology, Keimyung University College of Medicinee, Daegu; Department of Neurology, Ajou University College of Medicinef, Suwon; Department of Biological Science, Kongju National Universityg, Gongju; Department of Biological Science, Gachon Medical Schoolh, Incheon; Department of Chemistry, Kyungnam Universityi, Masan; Department of Pathology, Chonnam National University College of Medicinej, Gwangju, Korea |
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| Abstract |
Background: Mitofusin 2 (MFN2) is a membrane protein and is an essential component of mitochondrial fusion machinery. Mitochondrial fusion is essential for various biological functions in mammalian cells. Thus mutations in MFN2 are the underlying cause of Charcot-Marie-Tooth neuropathy type 2A (CMT2A). However, there has been no reports investigating the MFN2 genes in Korean CMT patients. Therefore, we investigated to find the clinical and genetic characteristics in Korean patients with the MFN2 gene mutation.
Methods: We examined the mutations of the MFN2 gene in 137 Korean CMT families. According to criteria from the European CMT consortium, CMT2 was 45 families. Mutations were confirmed by both strands sequencing. Nerve conduction studies were carried out in CMT patients having each mutation.
Results: Eight pathogenic mutations were found in 10 families. Six mutations (Leu92Pro, Gly127Asp, His165Arg, Ser263Pro, Arg364Trp, Met376Thr) were determined to be novel, and those were not detected in the 100 healthy controls. A de novo missense mutation was found in three CMT families (30%). The frequency of the MFN2 mutation was 22.2%, which was higher than those found in the Cx32 mutation. In CMT2A, the frequencies with early age at onset (＜10 years) and flat feet were 46.2%.
Conclusions: We found MFN2 mutations in patients with sporadic or dominantly inherited CMT. In the majority of cases with CMT type 2, the axonal neuropathy, may be due to MFN2 mutations. KeyWords:Charcot-Marie-Tooth disease, Characteristics, Mitofusin 2, Gene, Mutation |
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