线粒体tRNALys基因中MERRF替代G8361A的突变谱扩展

The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.

作者信息

Rossmanith Walter, Raffelsberger Thomas, Roka Julia, Kornek Barbara, Feucht Martha, Bittner Reginald E

机构信息

Neuromuscular Research Department, Institute of Anatomy, University of Vienna Medical School, Währinger Strasse 13, 1090 Vienna, Austria.

出版信息

Ann Neurol. 2003 Dec;54(6):820-3. doi: 10.1002/ana.10753.

DOI:10.1002/ana.10753

PMID:14681892

Abstract

In a case of childhood-onset myoclonus epilepsy with "ragged-red fibers" (MERRF), a hitherto unreported mutation within the mitochondrial tRNA(Lys) gene was identified as the cause of the disease. Substitution G8361A was maternally inherited, heteroplasmic in all tissues tested, and correlated with mitochondrial dysfunction in individual muscle fibers. The growing number of MERRF-associated mutations within the tRNA(Lys) gene affirms the specific role of this mitochondrial tRNA in the pathogenesis of the disease.

摘要

在一例伴有“破碎红纤维”的儿童期起病的肌阵挛癫痫（MERRF）中，线粒体tRNA（Lys）基因内一个此前未报道的突变被确定为该病的病因。G8361A替换是母系遗传的，在所有检测组织中呈异质性，并与单个肌纤维中的线粒体功能障碍相关。tRNA（Lys）基因内与MERRF相关的突变数量不断增加，证实了这种线粒体tRNA在该疾病发病机制中的特定作用。