Abnormal Lipoproteins Trigger Oxidative Stress-Mediated Apoptosis of Renal Cells in LCAT Deficiency

Familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare genetic disease caused by the loss of function mutations in LCAT gene. characterized an abnormal lipoprotein profile with severe reduction plasma levels high-density (HDL) cholesterol and accumulation X (LpX). Renal failure major cause morbidity mortality FLD patients; pathogenesis renal only partly understood, but abnormalities could play role onset progression. Serum fractions from deficient carriers controls were tested for toxicity on podocytes tubular cells, underlying mechanisms investigated at cellular level. Both LpX HDL LCAT-deficient triggered oxidative stress which culminated cell apoptosis. These effects are explained enrichment unesterified ceramides, especially fraction. Thus, alterations composition explain some nephrotoxic lipoproteins cells.