Katholieke Universiteit Leuven, Department of Molecular Cell Biology, LIPIT, Campus Gasthuisberg, Herestraat, Leuven, Belgium.
J Lipid Res. 2010 Oct;51(10):2863-95. doi: 10.1194/jlr.R005959. Epub 2010 Jun 17.
In humans, peroxisomes harbor a complex set of enzymes acting on various lipophilic carboxylic acids, organized in two basic pathways, alpha-oxidation and beta-oxidation; the latter pathway can also handle omega-oxidized compounds. Some oxidation products are crucial to human health (primary bile acids and polyunsaturated FAs), whereas other substrates have to be degraded in order to avoid neuropathology at a later age (very long-chain FAs and xenobiotic phytanic acid and pristanic acid). Whereas total absence of peroxisomes is lethal, single peroxisomal protein deficiencies can present with a mild or severe phenotype and are more informative to understand the pathogenic factors. The currently known single protein deficiencies equal about one-fourth of the number of proteins involved in peroxisomal FA metabolism. The biochemical properties of these proteins are highlighted, followed by an overview of the known diseases.
在人类中，过氧化物酶体中含有一系列作用于各种亲脂性羧酸的复杂酶，这些酶被组织在两条基本途径中，即α-氧化和β-氧化；后者途径还可以处理ω-氧化的化合物。一些氧化产物对人类健康至关重要（初级胆汁酸和多不饱和脂肪酸），而其他底物则必须降解，以避免以后出现神经病理学（非常长链脂肪酸和异生物质植烷酸和鲨烯酸）。虽然过氧化物酶体的完全缺失是致命的，但单一过氧化物酶体蛋白缺乏症可能表现为轻度或重度表型，并且更有助于了解致病因素。目前已知的单一蛋白缺乏症约占过氧化物酶体 FA 代谢相关蛋白数量的四分之一。本文重点介绍了这些蛋白的生化特性，并概述了已知的疾病。
