一名具有线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）临床特征的患者，其亮氨酸2（CUN）转运核糖核酸中出现新型线粒体DNA颠换突变。

Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2 (CUN) in a patient with the clinical features of MELAS.

作者信息

Abu-Amero Khaled K, Ozand Pinar T, Al-Dhalaan Hesham

机构信息

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

出版信息

J Child Neurol. 2006 Nov;21(11):971-2. doi: 10.1177/08830738060210110601.

DOI:10.1177/08830738060210110601

PMID:17092464

Abstract

We describe an 11-year-old Saudi boy who had an encephalopathy suggestive of mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS). We screened his entire mitochondrial DNA coding region and detected one novel transversion point mutation at nt-12299 A > C in the transfer ribonucleic acid for leucine 2 (CUN) that is located in the anticodon loop. We believe that this mutation is the cause of his disease condition.

摘要

我们描述了一名11岁的沙特男孩，他患有提示线粒体脑肌病伴乳酸酸中毒和卒中样发作（MELAS）的脑病。我们对他的整个线粒体DNA编码区进行了筛查，在位于反密码子环的亮氨酸2（CUN）转运核糖核酸中检测到一个新的颠换点突变，即nt-12299 A > C。我们认为这个突变是导致他病情的原因。