Gorgas Karin, Teigler Andre, Komljenovic Dorde, Just Wilhelm W
Institut für Anatomie und Zellbiologie, Abteilung Medizinische Zellbiologie, Im Neuenheimer Feld 307, D-69120 Heidelberg, Germany.
Biochim Biophys Acta. 2006 Dec;1763(12):1511-26. doi: 10.1016/j.bbamcr.2006.08.038. Epub 2006 Aug 30.
Chemical and physico-chemical properties as well as physiological functions of major mammalian ether-linked glycerolipids, including plasmalogens were reviewed. Their chemical structures were described and their effect on membrane fluidity and membrane fusion discussed. The recent generation of mouse models with ether lipid deficiency offered the possibility to study ether lipid and particularly plasmalogen functions in vivo. Ether lipid-deficient mice revealed severe phenotypic alterations, including arrest of spermatogenesis, development of cataract and defects in central nervous system myelination. In several cell culture systems lack of plasmalogens impaired intracellular cholesterol distribution affecting plasma membrane functions and structural changes of ER and Golgi cisternae. Based on these phenotypic anomalies that were accurately described conclusions were drawn on putative functions of plasmalogens. These functions were related to cell-cell or cell-extracellular matrix interactions, formation of lipid raft microdomains and intracellular cholesterol homeostasis. There are several human disorders, such as Zellweger syndrome, rhizomelic chondrodysplasia punctata, Alzheimer's disease, Down syndrome, and Niemann-Pick type C disease that are distinguished by altered tissue plasmalogen concentrations. The role plasmalogens might play in the pathology of these disorders is discussed.
本文综述了包括缩醛磷脂在内的主要哺乳动物醚键连接甘油脂质的化学和物理化学性质以及生理功能。描述了它们的化学结构，并讨论了它们对膜流动性和膜融合的影响。最近生成的醚脂缺乏小鼠模型为在体内研究醚脂尤其是缩醛磷脂的功能提供了可能性。醚脂缺乏的小鼠表现出严重的表型改变，包括精子发生停滞、白内障形成以及中枢神经系统髓鞘形成缺陷。在几个细胞培养系统中，缩醛磷脂的缺乏会损害细胞内胆固醇分布，影响质膜功能以及内质网和高尔基池的结构变化。基于对这些准确描述的表型异常，得出了关于缩醛磷脂假定功能的结论。这些功能与细胞间或细胞与细胞外基质的相互作用、脂筏微结构域的形成以及细胞内胆固醇稳态有关。有几种人类疾病，如泽尔韦格综合征、点状软骨发育不良、阿尔茨海默病、唐氏综合征和尼曼-匹克C型病，其特征是组织中缩醛磷脂浓度改变。本文讨论了缩醛磷脂在这些疾病病理学中可能发挥的作用。
