Evaluation of exosomal microRNA profile in Familial Hypercholesterolemia carriers

• Grant number: 17/19043-2
• Support type: Scholarships in Brazil - Doctorate
• Effective date (Start): January 01, 2018
• Effective date (End): March 04, 2022
• Field of knowledge: Health Sciences - Pharmacy
• Principal researcher: Mario Hiroyuki Hirata
• Grantee: Renata Caroline Costa de Freitas
• Home Institution: Faculdade de Ciências Farmacêuticas (FCF). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated scholarship(s): 19/22147-0 - Evaluation of exosomal microRNA-Protein profile in Familial Hypercholesterolemia patients, BE.EP.DR

Abstract

Familial Hypercholesterolemia (FH) is a hereditary disorder of lipoprotein metabolism, which has genetic basis not fully understood yet. In this sense, microRNAs (miRs), particularly those transported by exosomes, have emerged as a new and potential tool in the search for a better elucidation of the physiopathological mechanisms of FH and thus contribute to individualized therapy. Therefore, the present study aimed to investigate the global expression profile of exosomal miRs in plasma of patients with FH. Patients with FH diagnosed phenotypically will be recruited in three research centers from different states of Brazil (n=270). The methods include biochemical parameters, cardiological evaluation by angiotomography, analysis of the global expression of exosomal miRs of plasma samples using the MiSeq platform (Illumina) and validation of the differentially expressed miRs and their mRNA targets by RT-qPCR. The present study is pioneer in the Brazil and its realization in the Brazilian population is innovative and challenging. The results of the present study will also contribute to the interactive knowledge of control of miR expression and its interference in target genes related to the physiopathology of FH, providing elements to improve the genetic diagnosis in patients with FH phenotype and their families, not clarified by sequencing genetic. In addition, it will provide training of human resources, research consolidation and development by the integration of the institutions involved. (AU)