In the last years increasing attention has been given to the connection between genotype/phenotype and cardiovascular events in subjects with familial hypercholesterolemia (FH). MicroRNAs (miRs) bound to high-density lipoprotein (HDL) may contribute to better discriminate the cardiovascular risk of FH subjects. Our aim was to evaluate the HDL-miR panel in heterozygous FH (HeFH) patients with an LDLR null or defective mutation and its association with pulse wave velocity (PWV). We evaluated lipid panel, HDL-miR panel and PWV in 32 LDLR null mutation (LDLR-null group) and 35 LDLR defective variant (LDLR-defective group) HeFH patients. HDL-miR-486 and HDL-miR-92a levels were more expressed in the LDLR-null group than the LDLR-defective group. When we further stratified the study population into three groups according to both the LDLR genotype and history of ASCVD (LDLR-null/not-ASCVD, LDLR-defective/not-ASCVD and LDLR/ASCVD groups), both the LDLR/ASCVD and the LDLR-null/not-ASCVD groups had a higher expression of HDL-miR-486 and HDL-miR-92a than the LDLR-defective/not-ASCVD group. Finally, HDL-miR-486 and HDL-miR-92a were independently associated with PWV. In conclusion, the LDLR-null group exhibited HDL-miR-486 and HDL-miR-92a levels more expressed than the LDLR-defective group. Further studies are needed to evaluate these HDL-miRs as predictive biomarkers of cardiovascular events in FH.
Analysis of HDL-microRNA panel in heterozygous familial hypercholesterolemia subjects with LDL receptor null or defective mutation / R. Scicali, A. Di Pino, C. Pavanello, A. Ossoli, A. Strazzella, A. Alberti, S. Di Mauro, A. Scamporrino, F. Urbano, A. Filippello, S. Piro, A.M. Rabuazzo, L. Calabresi, F. Purrello. - In: SCIENTIFIC REPORTS. - ISSN 2045-2322. - 9:1(2019 Dec 30), pp. 20354.1-20354.9.
|Titolo:||Analysis of HDL-microRNA panel in heterozygous familial hypercholesterolemia subjects with LDL receptor null or defective mutation|
|Settore Scientifico Disciplinare:||Settore BIO/14 - Farmacologia|
Settore MED/03 - Genetica Medica
Settore MED/09 - Medicina Interna
|Data di pubblicazione:||30-dic-2019|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1038/s41598-019-56857-2|
|Appare nelle tipologie:||01 - Articolo su periodico|