Nègre A, Salvayre R, Douste-Blazy L
Laboratoire de Biochimie, Faculté de Médecine Purpan et INSERM Unité 101, Toulouse, France.
Pathol Biol (Paris). 1988 Feb;36(2):167-81.
In the first part of the review are reported the properties of mammalian acid lipases and cholesterol esterases. Lysosomal acid lipase differs from the other acid or neutral lipases by its subcellular localization and a large substrate specificity on natural lipids, triglycerides and cholesteryl esters and on semi-synthetic or synthetic coloured or fluorescent substrates; the enzymatic activity of acid lipase depends on the presence of detergents and phospholipids and the structural properties are well known. In vivo, lysosomal acid lipase hydrolyses neutral lipids from exogenous origin (lipoprotein). The second part is an updated review on the diseases caused by hereditary acid lipase deficiency: Wolman's disease occurring in the first months of life and fatal before the age of one year and Cholesteryl Ester Storage Disease, a more benign form with normal lifespan. Both diseases are characterized by massive storage of neutral lipids. Molecular and metabolic pathways, new diagnostic tools used for the diagnosis and experimental cellular model systems are reviewed and discussed.
在综述的第一部分，报道了哺乳动物酸性脂肪酶和胆固醇酯酶的特性。溶酶体酸性脂肪酶与其他酸性或中性脂肪酶的不同之处在于其亚细胞定位以及对天然脂质、甘油三酯和胆固醇酯以及半合成或合成的有色或荧光底物具有较大的底物特异性；酸性脂肪酶的酶活性取决于去污剂和磷脂的存在，其结构特性也已为人所知。在体内，溶酶体酸性脂肪酶水解外源性（脂蛋白）中性脂质。第二部分是关于遗传性酸性脂肪酶缺乏症所引起疾病的最新综述：沃尔曼病发生在生命的最初几个月，一岁前致命，以及胆固醇酯贮积病，一种寿命正常的较为良性的形式。这两种疾病的特征都是中性脂质的大量贮积。文中对分子和代谢途径、用于诊断的新诊断工具以及实验性细胞模型系统进行了综述和讨论。
