VIEW AN ABSTRACT

Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited disease of the myocardium characterized by otherwise unexplained left ventricular hypertrophy. Other signs may include focal myocyte disarray, small-vessels coronary artery disease and interstitial fibrosis. Its phenotypic expression may vary among individuals. The aim of this study is application of the alternative approach in the diagnosis of HCM using modern proteomic tools. The analysis is based on quantification of the proteins contained in human plasma which could be influenced by the disease of interest. Two groups of plasma samples were used for the study; group of HCM patients and control group. The samples for the study were prepared by depletion of 14 most abundant proteins in human plasma, enzymatic digestion of the proteins, liquid chromatography of the obtained peptide mixture with the following mass spectrometry (MS) analysis. In the untargeted approach, MS analysis comprises first SWATH acquisition strategy followed by Skyline software evaluation which helps to select candidate proteins with different plasma concentration in comparison to the control group. Next MS technique called selected reaction monitoring (SRM) will be used for verification and final quantification of selected proteins in particular samples of patients and controls. For the candidate proteins, suitable peptides for SRM quantitation analysis analysis will be selected and analyzed in the samples from both patient and control group. Proteins that will show statistical significance for discrimination of patient and control group could be used then as the indicative markers of HCM disease.