Clinical and genetic features of 2 patients with severe hypertriglyceridemia due to a mutation in GPIHBP1 gene

Background: Familial chylomicronemia is a recessive disorder that may be due to mutations in ipoprotein lipase (LPL) and in other proteins such as apolipoprotein C-II and apolipoprotein A-V (activators of LPL), GPIHBP1 (the molecular platform required for LPL activity on endothelial surface), and LMF1 (a factor required for intracellular formation of active LPL).

Source: Nutrition, Metabolism, and Cardiovascular Diseases : NMCD - December 31, 2016 Category: Nutrition Authors: G.I. Altieri, R. Spina, D. Noto, V. Ingrassia, V. Valenti, A. Giammanco, F. Fayer, G. Misiano, C. Scrimali, A. Ganci, C.M. Barbagallo, A.B. Cefalu', M.R. Averna Source Type: research