GENETIC, BIOCHEMICAL, AND CLINICAL FEATURES OF LCAT DEFICIENCY IN ITALY

The lecithin:cholesterol acyltransferase (LCAT) enzyme is responsible for the esterification of all cholesterol in plasma. Defects in the gene coding for this protein cause a rare metabolic disease characterized by the total or partial inability of the enzyme to esterify cholesterol. While in normal subjects about 70% of plasma cholesterol is esterified, in subjects with mutations in the LCAT gene almost all the cholesterol is in the non esterified form and tends to accumulate into tissues. A large proportion of the affected subjects early develop severe renal disease, which requires hemodialysis and renal transplantation. They all present with a marked reduction of HDL cholesterol (the “good cholesterol”), which could lead to an increased risk of cardiovascular disease. The project presented to Telethon will help in defining the prevalence of renal and cardiovascular manifestations among carriers of LCAT gene mutations, and in developing a therapeutic intervention today not available.