PT -期刊文章AU -马Ziosi盟迪苏兹描述当时的情景Meo盟盟朱利奥·克莱恩- Xing-Huang高盟Emanuele巴萨AU -玛丽亚J Sancez-Quintero盟萨特盟-宏峰蒋盟长虹乔盟-理查德J Rodenburg AU - Emmanuel Scalais AU -马库斯Schuelke盟贝琳达威拉德AU -玛丽亚Hatzoglou AU -瓦Tiranti AU -卡塔琳娜州Quinzii Hirano TI -辅酶Q不足造成损伤的硫化物氧化途径(P5.136) DP - 2017年4月18日TA -神经病学PG - P5.136 VI - 88 IP - 16补充4099 - //www.ez-admanager.com/content/88/16_Supplement/P5.136.short 4100 - //www.ez-admanager.com/content/88/16_Supplement/P5.136.full所以Neurology2017 4月18日;首页88 AB -目的:评估的角色硫化物(H2S)氧化损伤在辅酶Q(公鸡)缺乏症。背景:主要公鸡缺乏症是一种临床上异构引起的常染色体隐性线粒体疾病的突变基因编码的蛋白质参与公鸡生物合成,和不定地响应公鸡的补充。这种异质性在临床表现和治疗反应表明,可能存在多个pathomechanisms,这并不奇怪因为辅酶q10是一种脂质抗氧化和电子载体,存在于所有细胞膜和参与许多生物学过程。公鸡是一个电子受体对硫化醌还原酶(SQR)、硫化氢氧化途径的第一个酶。硫化氢参与一些生理功能。然而,如果累积的微摩尔的浓度,抑制酶活性的复杂IV的线粒体呼吸链和短链酰基辅酶a脱氢酶(竹荚鱼),导致二元羧酸酸尿。设计/方法:分子和生化研究评估硫化氢氧化成纤维细胞的患者中进行,CoQ-depleted细胞和小鼠模型的公鸡缺乏症。结果:在人类皮肤成纤维细胞缺乏公鸡导致硫化氢氧化损伤,与公鸡的残留水平成正比。生化和分子异常由体外补充公鸡获救,公鸡生物合成的抑制体外完成。受影响的器官Pdss2kd / kd老鼠:(i) SQR和下游酶,蛋白质含量降低(2)积累氢硫化物,(iii)谷胱甘肽耗竭。Pdss2kd / kd老鼠我们也观察到低水平的血浆和尿硫代硫酸盐和增加血液C4-C6 acylcarnitines。Conclusions: We describe for the first time a defect of fatty acid oxidation to be associated with primary CoQ deficiency. This observation deserves further confirmation in human patients, because it might explain some of the clinical features present in CoQ deficiency with a severe early-onset multi-organ phenotype, and has clear therapeutic implications.Disclosure: Dr. Ziosi has nothing to disclose. Dr. Di Meo has nothing to disclose. Dr. Kleiner has nothing to disclose. Dr. Gao has nothing to disclose. Dr. Barca has nothing to disclose. Dr. Sancez-Quintero has nothing to disclose. Dr. Tadesse has nothing to disclose. Dr. Jiang has nothing to disclose. Dr. Qiao has nothing to disclose. Dr. Rodenburg has nothing to disclose. Dr. Scalais has nothing to disclose. Dr. Schuelke has nothing to disclose. Dr. Willard has nothing to disclose. Dr. Hatzoglou has nothing to disclose. Dr. Tiranti has nothing to disclose. Dr. Quinzii Hirano has nothing to disclose.

map