The Role of Long RNAs in Stratifying Residual Cardiovascular Risk Among Patients with Familial Hypercholesterolemia

• Grant number: 24/21203-1
• Support Opportunities: Scholarships in Brazil - Master
• Start date: May 01, 2025
• End date: February 28, 2026
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Marcelo Arruda Nakazone
• Grantee: Lucilla Frederico Yepes
• Host Institution: Faculdade de Medicina de São José do Rio Preto (FAMERP). Secretaria de Desenvolvimento Econômico (São Paulo - Estado). São José do Rio Preto , SP, Brazil

Abstract

Genetic dyslipidemias involving lipid and lipoprotein metabolism are associated with an increased risk of atherosclerotic diseases. In this context, long non-coding RNAs (lncRNAs) have been recognized as key regulatory molecules in various biological processes, including the development and progression of cardiovascular diseases. This study aims to evaluate the role of the differential expression profiles of lncRNAs related to lipid metabolism and atherosclerosis in the stratification of residual cardiovascular risk in patients with familial hypercholesterolemia (FH). The study will include 80 participants, comprising 40 patients with genetically confirmed FH and 40 controls. Peripheral blood samples from participants will undergo total RNA extraction, purification, quantification, cDNA synthesis, and expression analysis of the lncRNAs MIAT and HOTAIR using RT-qPCR. Statistical analyses will be performed, with significance set at P<0.05. This pioneering study in Brazil, conducted in a highly diverse Brazilian population with molecularly confirmed FH, is both innovative and challenging. The findings aim to contribute to the therapeutic optimization of patients at residual cardiovascular risk and, in the long term, to support the early identification of individuals who may benefit from additional lipid-lowering therapies for primary cardiovascular prevention, considering their high risk of atherosclerotic complications.