Molecular Characterization of Phospholamban and Clinical Epidemiology in Human Cardiomyopathy
Published: 2022-01-31
Page: 20-30
Issue: 2022 - Volume 4 [Issue 1]
Gnana Veera Subhashini *
Baba Clinical and Genomic Research Centre, Chennai 600113, Tamil Nadu, India and International Center for Cardio Thoracic and Vascular Diseases, Frontier Lifeline, Chennai, India.
Beesetti Swarna latha
Baba Clinical and Genomic Research Centre, Chennai 600113, Tamil Nadu, India and Department of Biotechnology, Indian Institute of Technology-Madras, India.
Mavuluri Jayadev
Baba Clinical and Genomic Research Centre, Chennai 600113, Tamil Nadu, India and Department of Biotechnology, Indian Institute of Technology-Madras, India.
C. Emmanuel
International Center for Cardio Thoracic and Vascular Diseases, Frontier Lifeline, Chennai, India.
K. M. Cherian
International Center for Cardio Thoracic and Vascular Diseases, Frontier Lifeline, Chennai, India.
*Author to whom correspondence should be addressed.
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.
Keywords: Cardiomyopathy, hemodynamic and biochemical parameters, epidemiological and clinical parameters, phospholamban