RT期刊文章SR电子T1线粒体DNA (mtDNA)多个删除:mtDNA分析大规模并行测序(P07.020)摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP P07.020 OP P07.020 VO 80是7补充A1玛格丽塔Milone A1方圆首页李A1夏添A1沃尔特·福杰尔A1布莱恩Weinshenker A1李进黄年2013 UL //www.ez-admanager.com/content/80/7_Supplement/P07.020.abstract AB目的:寻找mtDNA 18缺陷无关的疑似线粒体紊乱患者临床表型的基础上和/或组织学证据表明线粒体肌病。背景:许多患者线粒体疾病的分子诊断仍然是难以捉摸的。缺陷mtDNA可以很容易地检测到的最近发展一步全面大规模并行测序(LR-PCR /议员)分析为基础同时检测mtDNA点突变和大型mtDNA删除heteroplasmy量化。设计/方法:我们测试肌肉的两组患者,21岁,72年,由LR-PCR /议员。组# 1包括11肌病患者单独或与进步的外部眼肌麻痹和/或周围神经病变,其中10组织学证据表明线粒体肌病。患者组# 2包括7中央和周围神经系统的参与,4与线粒体肌病在活检和3与正常肌肉活检。两个病人组# 1和4患者组# 2有负面mtDNA共同的点突变和删除筛选传统PCR /麻生太郎和印迹,分别。结果:组# 1:所有11个病人显示多个mtDNA删除;此外,3例进行主要致病mtDNA突变。组# 2:3例有多个mtDNA删除和2,年龄38岁,还携带致病mtDNA错义突变;2例存在致病性mtDNA错义突变与大规模删除有关;2主题(分别为32岁和55岁)mtDNA显示正常。结论:组织线粒体肌病的迹象可能会伴随着mtDNA缺失或点突变。 While the etiology of multiple deletions is indeterminate and requires nuclear genes analysis, mtDNA deletions accompanying pathogenic point mutations, independently from patient's age, may contribute to the phenotypic severity. The increased sensitivity of LR-PCR/MPS might decrease specificity of the mtDNA deletions as finding suggestive of defects in nuclear genes affecting mtDNA maintenance.Supported by: The Mayo Clinic CTSA through grant number UL1 RR024150 from NIH/NCRR.Disclosure: Dr. Milone has nothing to disclose. Dr. Li has nothing to disclose. Dr. Tian has nothing to disclose. Dr. Folger has nothing to disclose. Dr. Weinshenker has received personal compensation for activities with Novartis, Biogen Idec, Elan Corporation, GlaxoSmithKline Inc., Asahi Kasei Kuraray Medical Company as a consultant and/or participant on a data safety monitoring board. Dr. Weinshenker has received (royalty or license fee or contractual rights) payments from Mayo Medical Ventures. Dr. Li has nothing to disclose.Thursday, March 21 2013, 2:00 pm-7:00 pm

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