Staiano Carmine, García-Corzo Laura, Mantle David, Turton Nadia, Millichap Lauren E, Brea-Calvo Gloria, Hargreaves Iain
Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, 41013 Sevilla, Spain.
Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Antioxidants (Basel). 2023 Jul 21;12(7):1469. doi: 10.3390/antiox12071469.
Originally identified as a key component of the mitochondrial respiratory chain, Coenzyme Q (CoQ or CoQ for human tissues) has recently been revealed to be essential for many different redox processes, not only in the mitochondria, but elsewhere within other cellular membrane types. Cells rely on endogenous CoQ biosynthesis, and defects in this still-not-completely understood pathway result in primary CoQ deficiencies, a group of conditions biochemically characterised by decreased tissue CoQ levels, which in turn are linked to functional defects. Secondary CoQ deficiencies may result from a wide variety of cellular dysfunctions not directly linked to primary synthesis. In this article, we review the current knowledge on CoQ biosynthesis, the defects leading to diminished CoQ levels in human tissues and their associated clinical manifestations.
辅酶Q（人体组织中为CoQ或CoQ）最初被确定为线粒体呼吸链的关键组成部分，最近发现它不仅在线粒体中，而且在其他类型细胞膜的其他部位，对许多不同的氧化还原过程都至关重要。细胞依赖内源性辅酶Q生物合成，而这一尚未完全了解的途径中的缺陷会导致原发性辅酶Q缺乏，这是一组以组织辅酶Q水平降低为生化特征的病症，而组织辅酶Q水平降低又与功能缺陷相关。继发性辅酶Q缺乏可能由多种与初级合成无直接关联的细胞功能障碍引起。在本文中，我们综述了关于辅酶Q生物合成、导致人体组织中辅酶Q水平降低的缺陷及其相关临床表现的现有知识。
