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一位肥厚型心肌病伴重度听力损失患者的线粒体 ND1 基因中新的 tRNA(Ile) m.4316A>G 突变与 m.3395A>G 错义突变相关。

A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.

机构信息

Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia.

出版信息

Biochem Biophys Res Commun. 2011 Jan 7;404(1):504-10. doi: 10.1016/j.bbrc.2010.12.012. Epub 2010 Dec 6.

DOI:10.1016/j.bbrc.2010.12.012
PMID:21144833
Abstract

Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of known polymorphisms associated to cardiomyopathy and/or hearing loss, and 2 novel heteroplasmic mutations: m.3395A>G (Y30C) occurring in a highly conserved aminoacid of the ND1 gene and the m.4316A>G located in the residue A54 of the tRNA(Ile) gene. These 2 novel variations were absent in 150 controls. All these variants may act synergistically and exert a cumulative negative effect on heart function to generate the cardiomyopathy.

摘要

线粒体对于心脏早期发育至关重要，线粒体功能调节异常与先天性心脏病有关。我们描述了一名患有肥厚型心肌病和严重听力损失的新生女婴。线粒体 DNA 突变分析显示存在与心肌病和/或听力损失相关的已知多态性，以及 2 种新的异质突变：m.3395A>G（Y30C）发生在 ND1 基因高度保守的氨基酸上，m.4316A>G 位于 tRNA（Ile）基因的残基 A54。这 2 种新的变异在 150 个对照中均不存在。所有这些变异可能协同作用，对心脏功能产生累积的负面影响，从而导致心肌病。

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