Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

被引：64

作者：

Cassereau, Julien ^{[2
,3
]}

Chevrollier, Arnaud ^{[1
,2
]}

Gueguen, Naig ^{[1
,2
]}

Malinge, Marie-Claire ^{[1
]}

Letournel, Franck ^{[4
]}

Nicolas, Guillaume ^{[3
]}

Richard, Laurence ^{[5
]}

Ferre, Marc ^{[1
,2
]}

Verny, Christophe ^{[3
]}

Dubas, Frederic ^{[3
]}

Procaccio, Vincent ^{[1
]}

Amati-Bonneau, Patrizia ^{[1
,2
]}

Bonneau, Dominique ^{[1
,2
]}

Reynier, Pascal ^{[1
,2
]}

机构：

[1] CHU Angers, Dept Biochem & Genet, F-49933 Angers, France

[2] INSERM, U694, F-49933 Angers, France

[3] CHU Angers, Dept Neurol, F-49933 Angers, France

[4] CHU Angers, Dept Pathol Cellulaire & Tissulaire, UF Neurobiol & Neuropathol, F-49933 Angers, France

[5] Ctr Hosp Univ, Dept Neurol, F-87042 Limoges, France

来源：

NEUROGENETICS | 2009年 / 10卷 / 02期

关键词：

GDAP1; Autosomal dominant Charcot-Marie-Tooth disease; CMT2K; Mitochondrial dynamics; Complex I; DIFFERENTIATION-ASSOCIATED PROTEIN-1; GLUTATHIONE TRANSFERASE; COUPLING DEFECT; 4A DISEASE; GDAP1; INHERITANCE; MUTATION; GENE;

D O I：

10.1007/s10048-008-0166-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have also been associated with CMT2K, a dominant form of the disease. The three CMT2K patients we studied carried a novel dominant GDAP1 mutation, C240Y (c.719G > A). Mitochondrial respiratory chain complex I activity in fibroblasts from CMT2K patients was 40% lower than in controls, whereas the tubular mitochondria were 33% larger in diameter and the mitochondrial mass was 20% greater. Thus, besides the regulatory role GDAP1 plays in mitochondrial network dynamics, it may also be involved in energy production and in the control of mitochondrial volume.

引用

页码：145 / 150

页数：6

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