Neutral lipid storage disease: a possible functional defect in phospholipid-linked triacylglycerol metabolism |
| |
Authors: | Mary L Williams Rosalind A Coleman Donna Placezk Carl Grunfeld |
| |
Institution: | 1. Department of Dermatology, Pediatrics and Medicien, University of California San Francisco, Dermatology and Medical Services, Veterans Administration Medical Center, San Francisco, U.S.A.;2. Department of Pediatrics and Biochemistry, Duke University Medical Center, Durham, NC, U.S.A. |
| |
Abstract: | Neutral lipid storage disease (NLSD) (Chanarin-Dorfman Syndrome) is an autosomal recessive disorder of multisystem triacyglycerol (TAG) storage. Previous work has pointed to a defect in intracellular TAG metabolism. In the studies reported here, the lipid metabolism of three lines of NLSD fibroblasts were compared to normal skin fibroblasts. When pulsed with 3H]oleic acid, the earliest observed abnormality in NLSD cell lines was increased incorporation into phosphatidylethanolamine, followed by accumulation of radiolabel in TAG. Activities of several glycerolipid synthetic enzymes were comparable in NLSD and normal fibroblast lines, excluding oversynthesis of glycerolipid. The proportion of plasmalogen and neutral ether lipid synthesized was normal and alkylglycerols did not accumulate, excluding a defect in ether lipid metabolism. Activities of both acid lipase and Mn2+-sensitive lipase within the particulate fractions of NLSD and normal fibroblasts were comparable. These studies are most consistent with functional deficiency of a TAG lipase with activity against a pool of TAG that are normally utilized for phospholipid biosynthesis. |
| |
Keywords: | Neutral lipid storage diasease Triacylglycerol metabolism Phosphatidylethanolamine Phosphatidylcholine Phospholipid biosythesis (Human fibroblast cell line) NLSD neutral lipid storage disease PC phosphatidylcholine PE phosphatidylethanolamine TAG triacylglycerol FA fatty acid |
本文献已被 ScienceDirect 等数据库收录! |
|