PT -期刊文章盟Caterina加隆AU -莎拉·卡尔沃盟瓦伦蒂娜的名叫Emmanuele盟Orhan h . Akman AU -佩奇卡普兰盟信德克里希纳AU -来自渡而非盟-萨尔瓦多DiMauro盟Hirano TI - MitoExome测序揭示线粒体MRPL51基因的突变引起小儿脑病(P05.139) DP - 2012年4月25日TA -神经病学PG - P05.139 P05.139 VI - 78 IP - 1补充4099 - //www.ez-admanager.com/content/78/1_Supplement/P05.139.short 4100 - //www.ez-admanager.com/content/78/1_Supplement/P05.1首页39.full所以Neurology2012 4月25日;78 AB -目的:描述一个新的突变与小儿脑病有关。背景在线粒体疾病分子诊断仍是具有挑战性的,因为不同的线粒体基因的突变可以与类似的临床表型有关。设计/方法:下一代外显子组测序是一个强大的工具来识别新的核基因编码线粒体蛋白质的突变。结果:在这里,我们报告首次MRPL51基因的突变,合成一个大的线粒体核糖体蛋白,在一个婴儿的女孩与新生儿出现肌阵挛性发作,胃肠蠕动障碍严重精神运动性延迟,先天性畸形,呼吸功能不全和乳酸酸中毒。她拥有一个纯合子MRPL51的错义突变基因(c。205G>A, H69Y) that impaired mitochondrial respiratory enzyme activities in muscle, brain, and liver. Skin fibroblasts showed milder defects of respiratory chain activities but had severe decreases in the steady state levels of complexes III and V proteins. Overexpression of wild type MRPL51 in fibroblasts rescued defects in both respiratory chain enzyme activities and protein levels.Conclusions: Our data document a new disorder of the mitochondrial translation machinery and demonstrate the accuracy of MitoExome sequencing in identifying molecular causes of infantile mitochondrial disorders.Supported by: AMMeC (Associazione Malattie Metaboliche e Congenite), Florence, by a grant (HD32062) from the National Institutes of Health (NIH), and from the Marriott Mitochondrial Disorders Clinical Research Fund (MMDCRF).Disclosure: Dr. Garone has nothing to disclose. Dr. Calvo has nothing to disclose. Dr. Emmanuele has nothing to disclose. Dr. Akman has nothing to disclose. Dr. Kaplan has nothing to disclose. Dr. Krishna has nothing to disclose. Dr. Mootha 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.Wednesday, April 25 2012, 14:00 pm-19:00 pm