TY -的T1 USMG5剪切位点突变导致利综合征由于缺乏ATP合成(P2.085) JF -神经学乔-神经学六世- 90 - 15补充SP - P2.085盟Emanuele巴萨AU -马蒂Juanola Falgaron首页a AU -瓦伦蒂娜的名叫Emmanuele盟塞巴特盟-马Ziosi盟Orhan Akman盟Kurenai痰迹AU -温迪涌盟渡Hirano Y1 - 2018/04/10 UR - //www.ez-admanager.com/content/90/15_Supplement/P2.085.abstract N2 -目的:描述患者USMG5纯合剪切位点突变,蛋白质需要ATP合酶functionBackground:利综合征,最常见的儿童的线粒体疾病,特点是进步的脑病。利综合征与超过70个基因变异,其中大多数是线粒体能量代谢所必需的。线粒体产生能量通过基质的氧化和ATP的生成。基因突变在结构和组装复杂V (ATP合酶)经常与利综合症有关。缺陷在USMG5从未与人类diseasesDesign /方法:一个纯合子突变USMG5被全外显子组测序检测。验证了突变功能化验患者的成纤维细胞。高效液相色谱法(HPLC)是用于研究细胞ATP生产。确认的致病性突变,基因拯救生化表型是由使转染人类USMG5Results与野生型患者的成纤维细胞:在这里,我们描述一个2岁的男孩利综合症。全外显子组测序揭示USMG5剪切位点突变纯合子。研究患者的成纤维细胞显示改变ATP合酶水平和减少ATP合成尽管线粒体呼吸链酶的正常活动。 Genetic rescue of USMG5 demonstrated increase ATP synthase and recovery of ATP synthesis rate.Conclusions: We here demonstrate that a novel variant in USMG5 causes Leigh syndrome. The identification of defects in ATP synthase levels and ATP production in the patient’s fibroblasts indicates that USMG5 plays a critical role in cell mitochondrial energy homeostasis.Disclosure: Dr. Barca has nothing to disclose. Dr. Juanola-Falgarona has nothing to disclose. Dr. Emmanuele has nothing to disclose. Dr. Tadesse has nothing to disclose. Dr. Ziosi has nothing to disclose. Dr. Akman has nothing to disclose. Dr. Tanji has nothing to disclose. Dr. Chung has nothing to disclose. Dr. Hirano has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Meves Pharmaceuticals Inc., Stealth BioTherapeutics Inc, and Sarepta Therapeutics Inc. ER -