Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation
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DOI：
10.1016/j.bbrc.2015.01.157
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发表时间：
2015-03-13
影响因子：
3.1
通讯作者：
Bruno, Claudio
中科院分区：
文献类型：
--
作者：
Brisca, Giacomo;Fiorillo, Chiara;Bruno, Claudio
线粒体疾病是一组具有氧化磷酸化系统缺陷的异质性疾病。线粒体DNA点突变是线粒体疾病的常见原因，并且经常影响线粒体转运RNA编码序列。线粒体tRNA（Leu（UUR））中的m.3271T>C突变传统上在具有线粒体脑肌病伴乳酸酸中毒和卒中样发作（MELAS）临床特征的患者中报告综合征和线粒体糖尿病。在这里，我们描述了一个意大利儿童和他的无症状的母亲的临床，病理和分子特征，携带线粒体tRNA（Leu（UUR））基因的m.3271T>C突变，与肥厚型心肌病占主导地位的不寻常临床表型相关，并提供该突变病例的综述文献。根据我们的知识，没有报道描述这种突变与心肌病的关系，我们的病例表明，在诊断母系遗传性心肌病时必须考虑m.3271T>C突变。(C)由Elsevier Inc.出版。
Mitochondrial disorders are a heterogeneous group of diseases sharing a defect of the oxidative phosphorylation system.Point mutations in the mitochondrial DNA are a common cause of mitochondrial disorders and frequently affect the sequences encoding mitochondrial transfer RNAs.The m.3271T>C mutation in the mitochondrial tRNA(Leu(UUR)) is traditionally reported in patients with clinical features of the mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome and in mitochondrial diabetes.Here we describe the clinical, pathological, and molecular features of an Italian child and his asymptomatic mother, carrying the m.3271T>C mutation in the mitochondrial tRNA(Leu(UUR)) gene, in association with an unusual clinical phenotype dominated by hypertrophic cardiomyopathy and provide review literature of cases with this mutation.To the best of our knowledge, there are no reports describing the association of this mutation with cardiomyopathy, and our cases suggest that the m.3271T>C mutation has to be taken into account in the diagnostic approach of maternally inherited cardiomyopathies. (C) 2015 Published by Elsevier Inc.