Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

被引：1223

作者：

Züchner, S

Mersiyanova, IV

Muglia, M

Bissar-Tadmouri, N

Rochelle, J

Dadali, EL

Zappia, M

Nelis, E

Patitucci, A

Senderek, J

Parman, Y

Evgrafov, O

De Jonghe, P

Takahashi, Y

Tsuji, S

Pericak-Vance, MA

Quattrone, A

Battologlu, E

Polyakov, AV

Timmerman, V

Schröder, JM

Vance, JM

机构：

[1] Duke Univ, Med Ctr, Ctr Human Genet, Durham, NC 27710 USA

[2] Rhein Westfal TH Aachen, Univ Hosp, Dept Neuropathol, D-52074 Aachen, Germany

[3] Russian Acad Med Sci, Med Genet Res Ctr, Moscow 115478, Russia

[4] CNR, Inst Neurol Sci, Cosenza, Italy

[5] Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey

[6] Fatih Univ, Dept Biol, TR-34500 Istanbul, Turkey

[7] Univ Magna Graecia, Inst Neurol, Catanzaro, Italy

[8] Univ Instelling Antwerp VIB, Dept Mol Genet, B-2610 Antwerp, Belgium

[9] Rhein Westfal TH Aachen, Univ Hosp, Inst Human Genet, D-52074 Aachen, Germany

[10] Univ Istanbul, Istanbul Med Sch, Dept Neurol, TR-34342 Istanbul, Turkey

[11] Univ Tokyo, Grad Sch Med, Dept Neurol, Bunkyo Ku, Tokyo 1138655, Japan

来源：

NATURE GENETICS | 2004年 / 36卷 / 05期

基金：

英国惠康基金; 美国国家卫生研究院;

关键词：

D O I：

10.1038/ng1341

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

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.

引用

页码：449 / 451

页数：4

共 15 条

[1]

Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism -: A novel regulatory mechanism altered in obesity [J].