MUTATIONAL ANALYSIS OF MYBPC3 GENE IN DILATED CARDIOMYOPATHY PATIENTS IN NORTH INDIAN POPULATION

Introduction: Today, molecular cardiology is characterized by the integration of high-technology laboratory studies and clinical medicine. Molecular genetics has redefined the etiology and diagnostic criteria for numerous diseases and has led to the development of new, individualized treatment regimens for several cardiovascular diseases. Amongst all, dilated cardiomyopathy is the commonest cause of heart failure. This study was conducted to identify the possible genetic change in dilated cardiomyopathy in North Indian population. Material & Methods: Blood samples of dilated cardiomyopathy patients were collected from Cardiology OPD, Sir Sunderlal Hospital, Banaras Hindu University. DNA was isolated using salting out method. PCR was done to amplify exons 32, 33 and 34 of MYBPC3 gene. The PCR product was sequenced to detect the mutational changes in Exons 32-34 of MYBPC 3 gene. Results: There were 65 control samples and 65 DCM samples were collected. Total 76 intronic variations were reported. In three (BHU/15/425, BHU/15/450, BHU/16/89) patients, disease causing pathogenic variant c3624_3625insC (rs397516029, HMGD CD0910628) was reported in MYBPC3 gene. Insertion of G at 47354119_47354120 position was reported that lead to a frameshift mutation in three subjects. Several Missence variants were also reported 47354121G>C, 47353899C>T, 47353715C>A, 47353647A>C, 47353626G>T that are present in coding region and may lead to alteration in protein structure and function. Conclusion: Evidence from previous study reported that MYBPC3 play important role in cardiac contraction and responsible for pathogenesis of dilated cardiomyopathy. Therefore, the identification of frequent genetic transmission of dilated cardiomyopathy provides an important tool for the study of pathogenesis of this disease, which is a frequent cause of admission to the hospital and of heart failure