Phospholipid and cholesteryl ester transfer are increased in lipoprotein lipase deficiency

Kaser S, Sandhofer A, Holzl B, Gander R, Ebenbichler CF, Paulweber B, Patsch JR (University Hospital Innsbruck, Innsbruck; and General Hospital Salzburg, Salzburg, Austria). Phospholipid and cholesteryl ester transfer are increased in lipoprotein lipase deficiency. J Intern Med 2003; 253: 208–216. Objectives. Phospholipid transfer protein (PLTP) and cholesteryl ester transfer protein (CETP) are key enzymes in lipoprotein metabolism by mediating the transfer and exchange of phospholipids (PL) and neutral lipids between lipoproteins. Lipoprotein lipase (LPL) deficiency is associated with low HDL-cholesterol (HDL-C) levels in both, the homozygous and heterozygous state. In the present study we set out to investigate the role of lipid transfer proteins, which are known to strongly determine HDL-C levels, in LPL deficiency. Design/subjects. Phospholipid acceptor and donor properties of lipoproteins, PLTP activity, CETP mass, activity and cholesteryl ester (CE) transfer were determined in two homozygous and six heterozygous LPL-deficient subjects and in 10 healthy, normolipidaemic controls, respectively. Results. The HDL isolated from LPL-deficient subjects showed strongly increased PL-acceptance when compared with controls (homozygotes versus heterozygotes versus control: 26.46 ± 15.26 vs. 3.41 ± 1.61 vs. 1.89 ± 0.33 μmol mL−1 h−1/μmol mL−1 PL; all P