Department of Biochemistry, Charité Universitätsmedizin Berlin, 10117 Berlin, Germany.
The Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK.
Biomolecules. 2024 Feb 9;14(2):206. doi: 10.3390/biom14020206.
Oxidative stress, characterized by an imbalance between the production of reactive oxygen species (ROS) and the cellular anti-oxidant defense mechanisms, plays a critical role in the pathogenesis of various human diseases. Redox metabolism, comprising a network of enzymes and genes, serves as a crucial regulator of ROS levels and maintains cellular homeostasis. This review provides an overview of the most important human genes encoding for proteins involved in ROS generation, ROS detoxification, and production of reduced nicotinamide adenine dinucleotide phosphate (NADPH), and the genetic disorders that lead to dysregulation of these vital processes. Insights gained from studies on inherited monogenic metabolic diseases provide valuable basic understanding of redox metabolism and signaling, and they also help to unravel the underlying pathomechanisms that contribute to prevalent chronic disorders like cardiovascular disease, neurodegeneration, and cancer.
氧化应激的特征是活性氧（ROS）的产生与细胞抗氧化防御机制之间失去平衡，在各种人类疾病的发病机制中起着关键作用。氧化还原代谢由一系列的酶和基因组成，是调节 ROS 水平和维持细胞内稳态的关键调节剂。本综述概述了最重要的人类基因，这些基因编码参与 ROS 生成、ROS 解毒以及还原型烟酰胺腺嘌呤二核苷酸磷酸（NADPH）生成的蛋白质，以及导致这些重要过程失调的遗传疾病。从遗传性单基因代谢疾病的研究中获得的见解为氧化还原代谢和信号转导提供了有价值的基础理解，并且有助于揭示导致心血管疾病、神经退行性疾病和癌症等常见慢性疾病的潜在病理机制。
