Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia

被引：6

作者：

Ronchi, Dario ^{[1
]}

Fassone, Elisa ^{[1
]}

Bordoni, Andreina ^{[1
]}

Sciacco, Monica ^{[1
]}

Lucchini, Valeria ^{[1
]}

Di Fonzo, Alessio ^{[1
]}

Rizzuti, Mafalda ^{[1
]}

Colombo, Irene ^{[1
]}

Napoli, Laura ^{[1
]}

Ciscato, Patrizia ^{[1
]}

Moggio, Maurizio ^{[1
]}

Cosi, Alessandra ^{[1
]}

Collotta, Martina ^{[1
]}

Corti, Stefania ^{[1
,2
]}

Bresolin, Nereo ^{[1
,2
,3
]}

Comi, Giacomo P. ^{[1
,2
]}

机构：

[1] Univ Milan, Dept Neurol Sci, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, I-20122 Milan, Italy

[2] Univ Milan, Ctr Excellence Neurodegenerat Dis, I-20122 Milan, Italy

[3] IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2011年 / 308卷 / 1-2期

关键词：

Progressive external ophthalmoplegia; PEO1 (C100RF2); Mitochondrial myopathy; mtDNA multiple deletions; COX deficiency; MITOCHONDRIAL-DNA DEPLETION; MTDNA MAINTENANCE; OPTIC ATROPHY; DELETIONS; SPECTRUM; DISORDER; HELICASE; ATAXIA; ADPEO;

D O I：

10.1016/j.jns.2011.05.042

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmoplegia (PEO) characterised by ptosis and ophthalmoparesis, with cytochrome c oxidase (COX)-deficient fibres, ragged-red fibres (RRF) and multiple mtDNA deletions in muscle. Here we describe clinical, histological and molecular features of two patients presenting with mitochondrial myopathy associated with PEO. PEO1 sequencing disclosed two novel mutations in exons 1 and 4 of the gene, respectively. Although mutations in PEO1 exon 1 have already been described, this is the first report of mutation occurring in exon 4. (C) 2011 Elsevier B.V. All rights reserved.

引用

页码：173 / 176

页数：4

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