Abstract:
Mitochondrial disorders are a group of clinically and biochemically heterogeneous genetic diseases within the group of inborn errors of metabolism. Primary mitochondrial diseases are mainly caused by defects in one or several components of the oxidative phosphorylation system (complexes I-V). Within these disorders, those associated with complex III deficiencies are the least common. However, thanks to a deeper knowledge about complex III biogenesis, improved clinical diagnosis and the implementation of next-generation sequencing techniques, the number of pathological variants identified in nuclear genes causing complex III deficiency has expanded significantly. This updated review summarizes the current knowledge concerning the genetic basis of complex III deficiency, and the main clinical features associated with these conditions.
摘要:
线粒体疾病是先天性代谢错误组中的一组临床和生化异质性遗传疾病。原发性线粒体疾病主要由氧化磷酸化系统(复合物I-V)的一种或几种成分的缺陷引起。在这些疾病中,与复杂III缺陷相关的缺陷是最不常见的。然而,由于对复杂III生物发生的更深入的了解,改善临床诊断和下一代测序技术的实施,在核基因中发现的导致复合物III缺乏症的病理变异数量已显著增加.这篇最新的综述总结了关于复杂III缺乏症遗传基础的最新知识,以及与这些疾病相关的主要临床特征。