The importance of ether-phospholipids: a view from the perspective of mouse models.
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.
Instituto de Biologia Molecular e Celular, Porto, Portugal.
Tiago Ferreira
TF
da Silva
Vera F
VF
Sousa
Ana R
AR
Malheiro
Pedro
P
Brites
D000818:Animals; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D004195:Disease Models, Animal; D051081:Glucosamine 6-Phosphate N-Acetyltransferase / Q000172:deficiency / Q000235:genetics; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D000074437:Peroxisomal Targeting Signal 2 Receptor; D010955:Plasmalogens / Q000378:metabolism / Q000502:physiology*; D018160:Receptors, Cytoplasmic and Nuclear / Q000172:deficiency / Q000235:genetics
D000074437:Peroxisomal Targeting Signal 2 Receptor; D010955:Plasmalogens; D018160:Receptors, Cytoplasmic and Nuclear; D051081:Glucosamine 6-Phosphate N-Acetyltransferase; C494972:Gnpnat1 protein, mouse