乙基丙二酸脑病中的硫化物（H(2)S）代谢改变。
Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
机构信息
Pierfranco and Luisa Mariani Center for Research on Children's Mitochondrial Disorders, Unit of Molecular Neurogenetics, Institute of Neurology Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Foundation, Milan, Italy.
出版信息
Cold Spring Harb Perspect Biol. 2013 Jan 1;5(1):a011437. doi: 10.1101/cshperspect.a011437.
Abstract
Hydrogen sulfide (sulfide, H(2)S) is a colorless, water-soluble gas with a typical smell of rotten eggs. In the past, it has been investigated for its role as a potent toxic gas emanating from sewers and swamps or as a by-product of industrial processes. At high concentrations, H(2)S is a powerful inhibitor of cytochrome c oxidase; in trace amounts, it is an important signaling molecule, like nitric oxide (NO) and carbon monoxide (CO), together termed "gasotransmitters." This review will cover the physiological role and the pathogenic effects of H(2)S, focusing on ethylmalonic encephalopathy, a human mitochondrial disorder caused by genetic abnormalities of sulfide metabolism. We will also discuss the options that are now conceivable for preventing genetically driven chronic H(2)S toxicity, taking into account that a complete understanding of the physiopathology of H(2)S has still to be achieved.
摘要
硫化氢（硫化物，H₂S）是一种无色、水溶性气体，具有典型的臭鸡蛋气味。过去，它曾被研究作为一种从下水道和沼泽中散发出来的强烈毒性气体，或作为工业过程的副产品。在高浓度下，H₂S 是细胞色素 c 氧化酶的强大抑制剂；在痕量下，它是一种重要的信号分子，如一氧化氮（NO）和一氧化碳（CO），共同被称为“气体递质”。本综述将涵盖 H₂S 的生理作用和致病作用，重点介绍乙基丙二酸脑病，这是一种由硫化物代谢遗传异常引起的人类线粒体疾病。我们还将讨论现在可以想象的预防遗传性慢性 H₂S 毒性的方法，考虑到对 H₂S 病理生理学的全面理解仍有待实现。
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