Erythrocyte membrane reacylation in juvenile neuronal ceroid-lipofuscinosis: measurement of membrane-bound carnitine palmitoyl transferase, acyl-CoA synthetase, and lysophospholipid: acyl-CoA acyltransferase activities.
In order to study the biochemical mechanisms responsible for the membrane fatty acid deficiency in juvenile neuronal ceroid-lipofuscinosis, we have analyzed the reacylation pathway in isolated erythrocyte membranes in 5 patients. We studied membrane carnitine palmitoyl transferase, and developed a combined assay to study acyl-CoA synthetase and lysophospholipid acyl-CoA acyltransferase activities. There were no significant differences between control and patient membranes, suggesting that abnormalities in these 3 putative candidate enzymes are not responsible for the disease.
Bennett
M J
MJ
Department of Pathology, University of Texas Southwestern Medical Center, Children's Medical Center of Dallas 75235, USA.
Boriack
R L
RL
D008243:1-Acylglycerophosphocholine O-Acyltransferase / Q000097:blood*; D002334:Carnitine O-Palmitoyltransferase / Q000097:blood*; D002648:Child; D003066:Coenzyme A Ligases / Q000097:blood*; D004910:Erythrocyte Membrane / Q000201:enzymology*; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000097:blood* / Q000201:enzymology; D012016:Reference Values; D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D000098859:Long-Chain-Fatty-Acid-CoA Ligase
D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D002334:Carnitine O-Palmitoyltransferase; D008243:1-Acylglycerophosphocholine O-Acyltransferase; D003066:Coenzyme A Ligases; C090799:FAA2 protein, S cerevisiae; D000098859:Long-Chain-Fatty-Acid-CoA Ligase