RT期刊文章SR电子T1 MERRF和Kearns-Sayre重叠综合征由于线粒体DNA M.3291T > C突变(P07.209)摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP P07.209 OP P07.209 VO 78是1首页补充A1瓦伦蒂娜名叫Emmanuele A1大卫银A1 Evangelia Sotiriou A1 Kurenai痰迹A1萨尔瓦多DiMauro A1渡Hirano年2012 UL //www.ez-admanager.com/content/78/1_Supplement/P07.209.abstract AB目的:报告一个复杂的表型患者的肌阵挛癫痫ragged-red纤维(MERRF)综合症和Kearns-Sayre综合症(KSS),存在一个m。3291 t > C突变tRNALeu (UUR)基因。这种突变从未被报道与MERRF / KSS综合症。背景个人港致病性mtDNA突变可以重叠特性典型的线粒体综合症。MERRF是一种多系统疾病,其特征是肌阵挛性发作、小脑性共济失调,线粒体肌病,和ragged-red纤维(RRF)肌肉活检,通常由m。> 8344 G tRNALys基因的突变。KSS是一种线粒体疾病的特点是发病前20岁的进步外部眼肌麻痹或颜料的视网膜病变,以及至少一个小脑性共济失调的三和弦,心传导阻滞,脑脊液蛋白升高。通常,KSS是由于单一、大规模的mtDNA删除。设计/方法:收集临床资料。肌肉组织化学和生化分析。肌肉DNA mtDNA大规模重组和点突变筛查。突变水平量化限制片段长度多态性(RFLP)分析。结果:48岁的男子出现进行性肌阵挛癫痫、小脑性共济失调,听力损失,肌痛的弱点,ophthalmoparesis,色素性视网膜病变,bifascicular心传导阻滞。 Muscle biopsy demonstrated multiple RRF. Biochemical analysis of respiratory chain enzymes was normal. Genetic tests were negative for the common MERRF mtDNA mutations, and no deletions in mitochondrial DNA were detected. Direct sequencing mtDNA revealed a T-to-C transition at nucleotide position 3291 in the tRNALeu(UUR) gene. PCR RFLP showed 92% mutant genome in muscle.Conclusions: This is the first report associating a m.3291T>C mutation in the tRNALeu(UUR) gene with an adult-onset MERRF/KSS overlap. Our data reinforce the well-established concept that, in mtDNA-related disorders, the same genetic abnormality can be associated with a wide spectrum of phenotypes, and the observation that tRNALeu(UUR) is a hotspot for mtDNA mutations.Supported by: The National Institutes of Health (NIH HD32062) and by the Marriott Mitochondrial Disorders Clinical Research Fund (MMDCRF). M.H. was supported by NIH grants (R01HD57543, R01HD056103, and RCNS070232) and by the Muscular Dystrophy Association.Disclosure: Dr. Emmanuele has nothing to disclose. Dr. Silvers has nothing to disclose. Dr. Sotiriou has nothing to disclose. Dr. Tanji has nothing to disclose. Dr. DiMauro has nothing to disclose. Dr. Hirano has received personal compensation for activities with Athena Diagnostics as a speaker.Dr. Hirano has received personal compensation in an editorial capacity for Current Neurology and Neuroscience Reports.Dr. Hirano has received research support from Santhera Pharmaceutical and Edison Pharmaceuticals.Thursday, April 26 2012, 14:00 pm-18:30 pm