Ricerc@Sapienza

Ischemic heart disease (IHD) is classically associated with coronary artery disease (CAD) and cardiovascular risk factors. Recent evidences give importance to the correlation between coronary microvascular dysfunction (CMD) and IHD, in absence of CAD, underlying the importance of coronary blood flow regulation mechanisms and their pathophysiology. Ion channels, expressed by coronary microvasculature represent the end effector of these mechanisms. We proposed a correlation between ion channels genetic variants and IHD. Recently, we reported the correlation between some single nucleotide polymorphisms (SNPs) of ion channels and IHD, independently from cardiovascular risk factors. The first goal of this prospective, observational, single-center study is to evaluate genetic and molecular aspects of regulators of coronary blood flow in patients with ischemic heart disease, including coroanry artery disease (stenosis >50%), coronary microvascular dysfunction and control group. The second goal is to investigate the stability of the proteins upon mutation, both thermodynamically and structurally. We will perform in 400 patients with ischemic heart disease a genetic analysis of regulators of coronary blood flow. Moreover, we will extend this analysis on other 600 extracted DNA previously obtained from ischemic patients. Furthermore, functional effect of protein coding variants identified in genes included in the panel will be analyzed through in silico structural analyses.