Deciphering the role of V200A and N291S mutations leading to LPL deficiency

Type I hyperlipoproteinemia is an autosomal recessive disorder of lipoprotein metabolism caused by mutations in the LPL gene, with an estimated prevalence in the general population of 1 in a million. In this work, we studied the molecular mechanism of two known mutations in the LPL gene by ex vivo and in vitro experiments and also the effect of two splice site mutations by ex vivo experiments.

Source: Atherosclerosis - January 20, 2019 Category: Cardiology Authors: Margherita Botta, Elisabeth Maurer, Massimiliano Ruscica, Stefano Romeo, Thomas M. Stulnig, Piero Pingitore Source Type: research