补体C1q结合蛋白(C1QBP,p32)主要位于线粒体基质中,与线粒体氧化磷酸化功能有关。C1QBP缺乏症表现为涉及多器官系统的线粒体疾病。最近,已在合并氧化磷酸化缺陷的常染色体隐性遗传模式患者中发现了疾病相关的C1QBP突变.临床范围从宫内生长受限到儿童(心脏)肌病和迟发性进行性眼外肌麻痹。本文综述了C1QBP的生理功能,其突变相关的线粒体心肌病在报道的现有患者和目前的实验性疾病平台中显示,这些条件进行建模。
Complement C1q binding protein (C1QBP, p32) is primarily localized in mitochondrial matrix and associated with mitochondrial oxidative phosphorylative function. C1QBP deficiency presents as a mitochondrial disorder involving multiple organ systems. Recently, disease associated C1QBP mutations have been identified in patients with a combined oxidative phosphorylation deficiency taking an autosomal recessive inherited pattern. The clinical spectrum ranges from intrauterine growth restriction to childhood (cardio) myopathy and late-onset progressive external ophthalmoplegia. This review summarizes the physiological functions of C1QBP, its mutation-associated mitochondrial cardiomyopathy shown in the reported available patients and current experimental disease platforms modeling these conditions.