成人起病 Leigh 综合征与 MT-CO1 中新型终止密码子突变 m.6579G>A 相关。

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.

机构信息

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

Department of Neurology, Southend University Hospital NHS Foundation Trust, Essex, UK; Department of Neurology, The Royal London Hospital, Barts Health NHS Trust, London, UK.

出版信息

Mitochondrion. 2019 Jul;47:294-297. doi: 10.1016/j.mito.2019.02.004. Epub 2019 Feb 8.

DOI:10.1016/j.mito.2019.02.004

PMID:30743023

Abstract

Adult-onset Leigh syndrome is a rare but important manifestation of mitochondrial disease. We report a 17 year old female who presented with subacute encephalopathy, brainstem and extrapyramidal signs, raised CSF lactate, and symmetrical hyperintensities in the basal ganglia on T2-weighted cerebral MRI. The presence of cytochrome c oxidase deficient fibres in muscle tissue prompted sequencing of the entire mitochondrial genome which revealed the novel stop codon mutation m.6579G>A; p.Gly226X in MT-CO1. Here we present the case and review the clinicopathological and molecular spectrum of previously reported MT-CO1 truncating mutations.

摘要

成人发病 Leigh 综合征是一种罕见但重要的线粒体疾病表现形式。我们报告了一例 17 岁女性，其表现为亚急性脑病、脑干和锥体外系体征、脑脊液乳酸升高，以及 T2 加权脑 MRI 上基底节区对称性高信号。肌肉组织中线粒体细胞色素 c 氧化酶缺陷纤维的存在促使对整个线粒体基因组进行测序，结果显示 MT-CO1 中存在新型终止密码子突变 m.6579G>A;p.Gly226X。在此，我们介绍了该病例，并回顾了先前报道的 MT-CO1 截断突变的临床病理和分子谱。