线粒体 DNA COX III 亚单位单一碱基对缺失与横纹肌溶解症相关。

Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis.

机构信息

St Vincent's Melbourne Neuromuscular Diagnostic Laboratory, Department of Clinical Neurosciences and Neurological Research, 5th Floor Daly Wing, St Vincent's Hospital, 35 Victoria Parade, Fitzroy, Victoria 3065, Australia.

出版信息

J Clin Neurosci. 2011 Feb;18(2):290-2. doi: 10.1016/j.jocn.2010.06.001. Epub 2010 Dec 15.

DOI:10.1016/j.jocn.2010.06.001

PMID:21163656

Abstract

A high number of cytochrome c oxidase (COX)-negative muscle fibres (approximately 45%) without ragged red fibres was found in a 27-year-old male patient with a single unprovoked episode of severe rhabdomyolysis. There was no family history of neuromuscular disorder and sequencing revealed a novel COX III single base pair deletion (MT-CO3{NC_012920.1}:m.[9559delC]). The deletion creates a frame shift and downstream termination codon affecting the last 136 amino acids (MT-CO3{YP_003024032.1}:p.[Pro118GlnfsX124]). The heteroplasmic mutation load in muscle was approximately 58% and single COX-negative fibres harboured significantly greater levels of mutant mitochondrial DNA than COX-positive fibres.

摘要

在一名 27 岁男性患者中发现大量细胞色素 c 氧化酶（COX）阴性肌纤维（约 45%），无粗糙红纤维，该患者曾有一次单一、无诱因的严重横纹肌溶解发作。无神经肌肉疾病家族史，测序显示 COX III 单碱基对缺失（MT-CO3{NC_012920.1}:m.[9559delC]）。该缺失导致移码和下游终止密码子，影响最后 136 个氨基酸（MT-CO3{YP_003024032.1}:p.[Pro118GlnfsX124]）。肌肉中的异质突变负荷约为 58%，单个 COX 阴性纤维携带的突变线粒体 DNA 水平明显高于 COX 阳性纤维。