Molecular Characterization of Phospholamban and Clinical Epidemiology in Human Cardiomyopathy

Abstract

Cardiomyopathy is commonly observed disease that may occurs due to mutations in either susceptible genes or modifier gene. People with broad age group are affected either attributable to spontaneous or inherited mutations of these genes. Various gene mutations are reported so far but only few of them were studied in detail. In the current study, we evaluated epidemiological variables like age, sex, familial status, parental consanguinity.  We also described specific clinical symptoms associated with the cardiomyopathy condition in Indian population. Our studies on mutation screening of phospholamban gene revealed two transitions (4880 C/T, 4887 T/G) in 5’ flanking region which might cause inherited dilated cardiomyopathy with refractory congestive heart failure. Information on epidemiological, clinical statistics and phospholamban gene mutation analysis is essential to guide the successful execution for future therapies and benefits us to identify those patients at risk for faster disease progression, congestive heart failure, and arrhythmia.