BACKGROUND:Cardiomyopathies are a heterogeneous group of heart muscle disorders and are classified as 1) Hypertrophic Cardiomyopathy (HCM) 2) Dilated cardiomyopathy (DCM) 3) Restrictive cardiomyopathy (RCM) and 4) Arrhythmogenic right ventricular dysplasia (ARVD) as per WHO classification, of which HCM and DCM are common. HCM is a complex but relatively common form of inherited heart muscle disease with prevalence of 1 in 500 individuals and is commonly associated with sarcomeric gene mutations. Cardiac muscle troponin I (TNNI-3) is one such sarcomeric protein and is a subunit of the thin filament-associated troponin-tropomyosin complex involved in calcium regulation of skeletal and cardiac muscle contraction. Mutations in this gene were found to be associated with a history of sudden cardiac death in HCM patients.AIM:Therefore the present study aims to identify for mutations associated with troponin I gene in a set of HCM patients from Indian population.MATERIALS AND METHODS:Mutational analyses of 92 HCM cases were carried out following PCR based SSCP analysis.RESULTS:The study revealed band pattern variation in 3 cases from a group of 92 HCM patients. This band pattern variation, on sequencing revealed base changes, one at nt 2560 with G>T transversion in exon-5 region with a wobble and others at nt 2479 and nt 2478 with G>C and C>G transversions in the intronic region upstream of the exon 5 on sequencing. Further analysis showed that one of the probands showed apical form of hypertrophy, two others showing asymmetric septal hypertrophy. Two of these probands showed family history of the condition.CONCLUSIONS:Hence, the study supports earlier reports of involvement of TNNI-3 in the causation of apical and asymmetrical forms of hypertrophy.
Cardiomyopathies are a heterogeneous group of heart muscle disorders responsible for a great deal of morbidity and mortality. Dilated, hypertrophic and restrictive are the three major categories of cardiomyopathies. Since reactive oxygen species has been implicated in wide range of genetic disorders and the role of antioxidant like superoxide dismutase as a scavenger has been highlighted, the present study envisages on identifying the specific electromorphic association of superoxide dismutase with cardiomyopathies and to delineate the genetic heterogeneity based on specific alleles at risk. Phenotyping was carried out on 8% PAGE of the red cell membrane samples following Davies (1964) and Beauchamp's (1975) protocols. Blood samples from 62 dilated cardiomyopathy, 80 hypertrophic cardiomyopathy and 86 healthy individuals were collected from CARE Hospitals and voluntary blood donor camps, Hyderabad. Significant association of homozygous SOD A*1 (χ 2 = 7.58) alleles with dilated cardiomyopathy and heterozygous SOD A*2-1 (χ 2 = 5.89) alleles with hypertrophic cardiomyopathy was observed, resulting in significant deviation of allelic frequency in cardiomyopathy group compared to the control group highlighting that individuals carrying SOD A*1 (χ 2 = 7.588) and SOD A*2-1 (χ 2 = 5.89) alleles may be at a greater risk for dilated and hypertrophic cardiomyopathy respectively. Thus SOD as a genetic marker may help in risk prediction and in delineating genetic heterogeneity of the condition and the role of superoxide dismutase with specific electromorphic association in influencing endogenous nitric oxide production and energy pathways by altering the structure and function of the cell membranes is discussed.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.