da Silva Tiago Ferreira, Sousa Vera F, Malheiro Ana R, Brites Pedro
Instituto de Biologia Molecular e Celular, Porto, Portugal.
Biochim Biophys Acta. 2012 Sep;1822(9):1501-8. doi: 10.1016/j.bbadis.2012.05.014. Epub 2012 May 31.
Ether-phospholipids represent an important group of phospholipids characterized by an alkyl or an alkenyl bond at the sn-1 position of the glycerol backbone. Plasmalogens are the most abundant form of alkenyl-glycerophospholipids, and their synthesis requires functional peroxisomes. Defects in the biosynthesis of plasmalogens are the biochemical hallmark of the human peroxisomal disorder Rhizomelic Chondrodysplasia Punctata (RCDP), which is characterized by defects in eye, bone and nervous tissue. The generation and characterization of mouse models with defects in plasmalogen levels have significantly advanced our understanding of the role and importance of plasmalogens as well as pathogenetic mechanisms underlying RCDP. A review of the current mouse models and the description of the combined knowledge gathered from the histopathological and biochemical studies is presented and discussed. Further characterization of the role and functions of plasmalogens will contribute to the elucidation of disease pathogenesis in peroxisomal and non-peroxisomal disorders. This article is part of a Special Issue entitled: Metabolic Functions and Biogenesis of Peroxisomes in Health and Disease.
醚磷脂是一类重要的磷脂，其特征在于甘油骨架的sn-1位上存在烷基或烯基键。缩醛磷脂是烯基甘油磷脂中最丰富的形式，其合成需要功能性过氧化物酶体。缩醛磷脂生物合成缺陷是人类过氧化物酶体疾病点状软骨发育不良（RCDP）的生化标志，该疾病的特征是眼睛、骨骼和神经组织存在缺陷。缩醛磷脂水平存在缺陷的小鼠模型的产生和表征显著推进了我们对缩醛磷脂的作用和重要性以及RCDP潜在致病机制的理解。本文对当前的小鼠模型进行了综述，并描述了从组织病理学和生化研究中收集到的综合知识，并进行了讨论。进一步表征缩醛磷脂的作用和功能将有助于阐明过氧化物酶体和非过氧化物酶体疾病的发病机制。本文是名为“健康与疾病中过氧化物酶体的代谢功能和生物发生”的特刊的一部分。
