Schwarz Guenter
Institute of Biochemistry, Department of Chemistry and Center for Molecular Medicine Cologne and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Zuelpicher Str. 47, 50674 Koeln, Germany.
Curr Opin Chem Biol. 2016 Apr;31:179-87. doi: 10.1016/j.cbpa.2016.03.016. Epub 2016 Apr 4.
Four molybdenum-dependent enzymes are known in humans, each harboring a pterin-based molybdenum cofactor (Moco) in the active site. They catalyze redox reactions using water as oxygen acceptor or donator. Moco is synthesized by a conserved biosynthetic pathway. Moco deficiency results in a severe inborn error of metabolism causing often early childhood death. Disease-causing symptoms mainly go back to the lack of sulfite oxidase (SO) activity, an enzyme in cysteine catabolism. Besides their name-giving functions, Mo-enzymes have been recognized to catalyze novel reactions, including the reduction of nitrite to nitric oxide. In this review we cover the biosynthesis of Moco, key features of Moco-enzymes and focus on their deficiency. Underlying disease mechanisms as well as treatment options will be discussed.
已知人类中有四种钼依赖酶，每种酶的活性位点都含有一种基于蝶呤的钼辅因子（Moco）。它们利用水作为氧受体或供体催化氧化还原反应。Moco是通过一条保守的生物合成途径合成的。Moco缺乏会导致严重的先天性代谢缺陷，常导致儿童早期死亡。致病症状主要归因于半胱氨酸分解代谢中一种酶——亚硫酸盐氧化酶（SO）活性的缺乏。除了其命名功能外，钼酶还被认为能催化新的反应，包括将亚硝酸盐还原为一氧化氮。在这篇综述中，我们涵盖了Moco的生物合成、Moco酶的关键特征，并重点关注其缺乏症。还将讨论潜在的疾病机制以及治疗选择。
