Preprint Article Version 1 This version is not peer-reviewed

Molecular Characterization of Phospholamban and Reninangiotensin System Genes Mutations and Clinical Epidemiology in Human Cardiomyopathy

Version 1 : Received: 4 July 2018 / Approved: 5 July 2018 / Online: 5 July 2018 (10:43:43 CEST)

How to cite: Subhashini, G.V.; Swarna latha, B.; jayadev, M.; C, E.; Cherian, K.M. Molecular Characterization of Phospholamban and Reninangiotensin System Genes Mutations and Clinical Epidemiology in Human Cardiomyopathy. Preprints 2018, 2018070093 (doi: 10.20944/preprints201807.0093.v1). Subhashini, G.V.; Swarna latha, B.; jayadev, M.; C, E.; Cherian, K.M. Molecular Characterization of Phospholamban and Reninangiotensin System Genes Mutations and Clinical Epidemiology in Human Cardiomyopathy. Preprints 2018, 2018070093 (doi: 10.20944/preprints201807.0093.v1).

Abstract

Background: 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. Methods: 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. Results: 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 are We further deliberated the gene polymorphism of renin angiotensin system gene angiotensin-1-converting enzyme as an associated marker/ modifier in cardiomyopathy patients and their family members. Conclusions: Information on epidemiological, clinical statistics, phospholamban gene mutation analysis and angiotensin-1-converting enzyme gene polymorphism 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.

Subject Areas

cardiomyopathy; hemodynamic and biochemical parameters; epidemiological and clinical Parameters; phospholamban angiotensin-1-converting enzyme

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