Accumulation of cardiolipin and lysocardiolipin in fibroblasts from Tangier disease subjects

• Published in: FEBS letters Vol. 500; no. 3; pp. 157 - 162
• Main Authors: Fobker, Manfred, Voss, Reinhard, Reinecke, Holger, Crone, Christina, Assmann, Gerd, Walter, Michael
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 06.07.2001
• Subjects: ABCA1, ATP binding cassette transporter 1; Adult; Aged; apo A-I, apolipoprotein A-I; Apolipoprotein A-I; ATP Binding Cassette Transporter 1; ATP-Binding Cassette Transporters - genetics; Biological Transport; Cardiolipin; Cardiolipins - analysis; Cardiolipins - metabolism; Cells, Cultured; Cholesterol - metabolism; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; CL, cardiolipin; DMEM, Dulbecco's modified Eagle's medium; Familial high density lipoprotein deficiency; Female; Fibroblasts - chemistry; Fibroblasts - metabolism; Fibroblasts - pathology; High density lipoprotein; Homozygote; HPLC, high performance liquid chromatography; Humans; LC, lysocardiolipin; Lysocardiolipin; Male; Middle Aged; Niemann–Pick type C disease; NPC disease, Niemann–Pick type C disease; PA, phosphatidic acid; PC, phosphatidylcholine; PE, phosphatidylethanolamine; Phospholipids - analysis; Phospholipids - metabolism; PI, phosphatidylinositol; PLD, phospholipase D; Sensitivity and Specificity; SM, sphingomyelin; Spectrometry, Mass, Secondary Ion; Sterol trafficking; Tangier disease; Tangier Disease - genetics; Tangier Disease - metabolism; Tangier Disease - pathology; TD, Tangier disease; TLC, thin layer chromatography; TOF SIMS, time-of-flight secondary ion mass spectrometry; NPC disease, Niemann–Pick type C disease; LC, lysocardiolipin; TLC, thin layer chromatography; High density lipoprotein; SM, sphingomyelin; Sterol trafficking; HPLC, high performance liquid chromatography; Lysocardiolipin; ABCA1, ATP binding cassette transporter 1; PI, phosphatidylinositol; PA, phosphatidic acid; PC, phosphatidylcholine; TD, Tangier disease; TOF SIMS, time-of-flight secondary ion mass spectrometry; apo A-I, apolipoprotein A-I; Familial high density lipoprotein deficiency; CL, cardiolipin; PE, phosphatidylethanolamine; ATP binding cassette transporter 1; DMEM, Dulbecco’s modified Eagle’s medium; Apolipoprotein A-I; PLD, phospholipase D; Tangier disease; Cardiolipin; Niemann–Pick type C disease

Tangier disease (TD) is an inherited disorder of lipid metabolism characterized by very low high density lipoprotein (HDL) plasma levels, cellular cholesteryl ester accumulation and reduced cholesterol excretion in response to HDL apolipoproteins. Molecular defects in the ATP binding cassette transp...