Clinical Genetics Unit, Department of Women and Children's Health, University of Padova and IPR Città Della Speranza, Padova, Italy.
Clinical Genetics Unit, Department of Women and Children's Health, University of Padova and IPR Città Della Speranza, Padova, Italy.
Free Radic Biol Med. 2021 Apr;166:277-286. doi: 10.1016/j.freeradbiomed.2021.02.039. Epub 2021 Mar 3.
Coenzyme Q (CoQ) is a redox active lipid that plays a central role in cellular homeostasis. It was discovered more than 60 years ago because of its role as electron transporter in the mitochondrial respiratory chain. Since then it has become evident that CoQ has many other functions, not directly related to bioenergetics. It is a cofactor of several mitochondrial dehydrogenases involved in the metabolism of lipids, amino acids, and nucleotides, and in sulfide detoxification. It is a powerful antioxidant and it is involved in the control of programmed cell death by modulating both apoptosis and ferroptosis. CoQ deficiency is a clinically and genetically heterogeneous group of disorders characterized by the impairment of CoQ biosynthesis. CoQ deficient patients display defects in cellular bioenergetics, but also in the other pathways in which CoQ is involved. In this review we will focus on the functions of CoQ not directly related to the respiratory chain, and on how their impairment is relevant for the pathophysiology of CoQ deficiency. A better understanding of the complex set of events triggered by CoQ deficiency will allow to design novel approaches for the treatment of this condition.
辅酶 Q（CoQ）是一种具有氧化还原活性的脂质，在细胞内稳态中起着核心作用。它是在 60 多年前因为其在线粒体呼吸链中作为电子转运体的作用而被发现的。从那时起，人们已经清楚地认识到 CoQ 具有许多其他与生物能量学没有直接关系的功能。它是几种参与脂质、氨基酸和核苷酸代谢以及硫化物解毒的线粒体脱氢酶的辅助因子。它是一种强大的抗氧化剂，通过调节细胞凋亡和铁死亡来参与程序性细胞死亡的控制。CoQ 缺乏是一组临床表现和遗传异质性的疾病，其特征是 CoQ 生物合成受损。CoQ 缺乏的患者表现出细胞生物能量学缺陷，但也表现出 CoQ 参与的其他途径缺陷。在这篇综述中，我们将重点介绍与呼吸链没有直接关系的 CoQ 功能，以及其功能障碍如何与 CoQ 缺乏的病理生理学相关。更好地了解 CoQ 缺乏引发的复杂事件将有助于设计治疗这种疾病的新方法。
