Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy

被引：17

作者：

Bannwarth, S. ^{[1
,11
]}

Procaccio, V. ^{[2
]}

Rouzier, C. ^{[1
]}

Fragaki, K. ^{[1
,11
]}

Poole, J. ^{[2
]}

Chabrol, B. ^{[3
]}

Desnuelle, C. ^{[4
]}

Pouget, J. ^{[5
]}

Azulay, J. P. ^{[5
]}

Attarian, S. ^{[5
]}

Pellissier, T. F. ^{[6
]}

Gargus, J. J. ^{[2
]}

Abdenur, J. E. ^{[7
]}

Mozaffar, T. ^{[2
]}

Calvas, P. ^{[8
]}

Labauge, P. ^{[9
]}

Pages, M. ^{[10
]}

Wallace, D. C. ^{[2
]}

Lambert, J. C. ^{[1
]}

Paquis-Flucklinger, V. ^{[1
,11
]}

机构：

[1] CHU Nice, Archet Hosp 2, Dept Med Genet, F-06202 Nice 3, France

[2] Univ Calif Irvine, Ctr Mol & Mitochondrial Med & Genet, Irvine, CA USA

[3] CHU Marseille, Timone Hosp, Dept Neuropediat, Marseille, France

[4] CHU Nice, Archet Hosp 2, Dept Reeduc, F-06202 Nice 3, France

[5] CHU Marseille, Timone Hosp, Dept Neurol, Marseille, France

[6] CHU Marseille, Timone Hosp, Dept Neuropathol, Marseille, France

[7] Childrens Hosp Orange Cty, Div Metab Disorders, Orange, CA USA

[8] CHU Toulouse, Purpan Hosp, Dept Genet, Toulouse, France

[9] CHU Nimes, Carmeau Hosp, Dept Neurol, Nimes, France

[10] CHU Montpellier, Gui de Chauliac Hosp, Dept Neurol, Montpellier, France

[11] Sch Med, CNRS, UMR 6543, Nice, France

来源：

MITOCHONDRION | 2008年 / 8卷 / 02期

关键词：

mtDNA; neuromuscular disorder; respiratory chain dysfunction; surveyor endonuclease;

D O I：

10.1016/j.mito.2007.10.008

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Mutations of mitochondrial genome are responsible for respiratory chain defects in numerous patients. We have used a strategy, based on the use of a mismatch-specific DNA endonuclease named "Surveyor (TM) Nuclease", for screening the entire mtDNA in a group of 50 patients with neuromuscular features, suggesting a respiratory chain dysfunction. We identified mtDNA mutations in 20% of patients (10/50). Among the identified mutations, four are not found in any mitochondrial database and have not been reported previously. We also confirm that mtDNA polymorphisms are frequently found in a heteroplasmic state (15 different polymorphisms were identified among which five were novel). (C) 2007 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

引用

页码：136 / 145

页数：10

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