The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype

被引：4

作者：

Alston, Charlotte L. ^{[1
]}

Bender, Andreas ^{[2
]}

Hargreaves, Iain P. ^{[3
]}

Mundy, Helen ^{[4
]}

Deshpande, Charulata ^{[5
]}

Klopstock, Thomas ^{[2
,6
]}

McFarland, Robert ^{[1
]}

Horvath, Rita ^{[1
]}

Taylor, Robert W. ^{[1
]}

机构：

[1] Newcastle Univ, Mitochondrial Res Grp, Inst Ageing & Hlth, Sch Med, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Univ Munich, Dept Neurol, Klinikum Grosshadern, D-81377 Munich, Germany

[3] Natl Hosp Neurol & Neurosurg, Neurometab Unit, London WC1N 3BG, England

[4] Guys & St Thomas NHS Fdn Trust, Ctr Inherited Metab Dis, London, England

[5] Guys & St Thomas NHS Fdn Trust, Dept Clin Genet, London, England

[6] Univ Munich, Friedrich Baur Inst, Dept Neurol, Klinikum Innenstadt, D-80336 Munich, Germany

来源：

NEUROMUSCULAR DISORDERS | 2010年 / 20卷 / 06期

基金：

英国惠康基金;

关键词：

Mitochondrial DNA; m.3243; CPEO; Pathogenicity; Single fibres; HUMAN-DISEASE; MTDNA; DIAGNOSIS; CELLS;

D O I：

10.1016/j.nmd.2010.04.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The m.3243A>G point mutation in the mitochondrial tRNA(Leu(UUR)) (MTTL1) gene is a common cause of mitochondrial DNA disease and is associated with a variety of clinical presentations. A different mutation occurring at the same site - an m.3243A>T transversion - is less prevalent, but has previously been observed in two patients with encephalopathy and lactic acidosis. We report the investigations of a further two patients with the m.3243A>T mutation who presented with either a chronic progressive external ophthalmoplegia (CPEO) phenotype or sensorineural hearing loss, with single fibre mutation studies confirming segregation of the m.3243A>T mutation with COX deficiency. (C) 2010 Elsevier B.V. All rights reserved.

引用

页码：403 / 406

页数：4

共 22 条

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Taylor, RW ;

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[22] URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION [J].

Whittaker, R. G. ;

Blackwood, J. K. ;

Alston, C. L. ;

Blakely, E. L. ;

Elson, J. L. ;

McFarland, R. ;

Chinnery, P. F. ;

Turnbull, D. M. ;

Taylor, R. W. .

NEUROLOGY, 2009, 72 (06) :568-569

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The pathogenic m.3243A&gt;T mitochondrial DNA mutation is associated with a variable neurological phenotype

The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype