LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters

Cholesteryl ester storage disease (CESD) due to LIPA gene mutations is characterized by hepatic steatosis, hypercholesterolemia and hypoalphalipoproteinemia, exposing affected patients to an increased cardiovascular risk. Further insights into the impact of LIPA gene mutations on lipid/lipoprotein metabolism are limited. Aim of the study was to investigate the effect of carrying one or two mutant LIPA alleles on lipoprotein composition and function.

Source: Atherosclerosis - January 30, 2020 Category: Cardiology Authors: Lorenzo Arnaboldi, Alice Ossoli, Eleonora Giorgio, Livia Pisciotta, Tiziano Lucchi, Liliana Grigore, Chiara Pavanello, Agnese Granata, Andrea Pasta, Beatrice Arosio, Domenico Azzolino, Andrea Baragetti, Samuela Castelnuovo, Alberto Corsini, Alberico L. Ca Source Type: research