慢性进行性眼外肌麻痹：线粒体DNA的一种新的异质性tRNA（Leu（CUN））突变
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.
作者信息
Cardaioli E, Da Pozzo P, Malfatti E, Gallus G N, Rubegni A, Malandrini A, Gaudiano C, Guidi L, Serni G, Berti G, Dotti M T, Federico A
机构信息
Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, Siena, Italy.
出版信息
J Neurol Sci. 2008 Sep 15;272(1-2):106-9. doi: 10.1016/j.jns.2008.05.005. Epub 2008 Jul 7.
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 TpsiC branch. By RFLP analysis we could demonstrate different degrees of heteroplasmy 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.
我们对一名患有慢性进行性外眼肌麻痹的患者的线粒体tRNA所有基因进行了测序，该患者有5%的破碎红纤维和15%的细胞色素氧化酶阴性纤维，但线粒体DNA（mtDNA）无大片段重排。直接测序显示，tRNA（Leu（CUN））基因第12316位存在一种新的异质性G>A替换。这种变化破坏了tRNA TpsiC臂中一个高度保守的G-C碱基对。通过限制性片段长度多态性（RFLP）分析，我们能够证明在患者不同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群体中未发现这种改变，因此可认为该改变具有致病性：它是迄今为止描述的第10种tRNA（Leu（CUN））致病性突变。
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