Chronic progressive external ophthalmoplegia:: A new heteroplasmic tRNA Leu(CUN) mutation of mitochondrial DNA
Chronic progressive external ophthalmoplegia:: A new heteroplasmic tRNA Leu(CUN) mutation of mitochondrial DNA
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DOI：
10.1016/j.jns.2008.05.005
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发表时间：
2008-09-15
影响因子：
4.4
通讯作者：
Federico, A.
中科院分区：
文献类型：
--
作者：
Cardaioli, E.;Da Pozzo, P.;Federico, A.
我们测序了一个慢性进行性眼外肌麻痹患者的所有线粒体tRNA基因，该患者有5%的红纤维粗糙，15%的COX阴性纤维，但没有线粒体DNA（mtDNA）的大重排。直接测序结果表明，tRNA基因12316位存在一个新的G> A异质性取代（Leu（CUN））。这种变化破坏了tRNA T psi C分支中高度保守的G-C碱基偶联。通过RFLP分析，我们可以发现不同患者的组织中存在不同程度的异质性。在110名患有不同脑肌病的患者中不存在这种改变，可以认为是致病性的：它是迄今为止描述的第十种tRNA（Leu（CUN））致病性突变。(C)2008 Elsevier B. V保留所有权利。
We sequenced all genes of mitochondrial tRNAs of a patient with chronic progressive external ophthalmoplegia with 5% ragged red fibres and 15% COX-negative fibres but without macrorearrangements of mitochondrial DNA (mtDNA). Direct sequencing showed a novel heteroplasmic G > A substitution in position 12316 of tRNA(Leu(CUN)) gene. This change destroys a highly conserved G-C base coupling in tRNA T psi C branch. By RFLP analysis we could demonstrate different degrees of heteroplasiny in different patient's tissues. This alteration, absent in a population of 110 patients with different encephalomyopathies, can be considered pathogenic: it is the tenth tRNA (Leu(CUN)) pathogenic Mutation described up to date. (C) 2008 Elsevier B.V All rights reserved.