Background: Dilated Cardiomyopathy (DCM) is one of the most commonly encountered heart diseases reported globally. It is characterized by enlarged ventricles with impaired systolic and diastolic functions. Mutations in gene are one of the causative factors to precipitate the disease. However, association of SNPs of with DCM in particular has not been well documented.
Method: Here we present a limited and restricted case study of patients from south eastern part of India afflicted with idiopathic DCM and conduction defects. By using next generation sequencing we have sequenced the exons of gene from genomic DNA isolated from patients.
Result: We have identified the linkage of 8 different SNPs with idiopathic DCM viz. rs121117552, rs538089, rs505058, rs4641, rs646840, rs534807, rs80356803 and rs7339. These SNPs are scattered throughout the gene with prevalence for the region encoding the central rod domain of lamin A/C.
Conclusion: Most of these SNPs in were previously reported to be involved in various disorders other than DCM. We conclude that, variation in is one of the major underlying genetic causes for the pathogenesis of DCM, as observed in few Indian populations.
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http://dx.doi.org/10.1016/j.ijcha.2015.02.008 | DOI Listing |
J Cardiovasc Electrophysiol
January 2025
Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China.
Ryanodine receptor 2 (RyR2) protein, a calcium ion release channel in the sarcoplasmic reticulum (SR) of myocardial cells, plays a crucial role in regulating cardiac systolic and diastolic functions. Mutations in RyR2 and its dysfunction are implicated in various congenital heart diseases (CHDs). Studies have shown that mutations in the RYR2 gene, which encodes the RyR2 protein, are linked to several cardiac arrhythmias, including catecholaminergic polymorphic ventricular tachycardia (CPVT), long QT syndrome (LQTS), calcium release deficiency syndrome (CRDS), and atrial fibrillation (AF).
View Article and Find Full Text PDFThe heart employs a specialized ribosome in its muscle cells to translate genetic information into proteins, a fundamental adaptation with an elusive physiological role. Its significance is underscored by the discovery of neonatal patients suffering from often fatal heart failure caused by rare compound heterozygous variants in RPL3L, a muscle-specific ribosomal protein that replaces the ubiquitous RPL3 in cardiac ribosomes. -linked heart failure represents the only known human disease arising from mutations in tissue-specific ribosomes, yet the underlying pathogenetic mechanisms remain poorly understood despite an increasing number of reported cases.
View Article and Find Full Text PDFJ Mol Cell Cardiol Plus
March 2024
National Coalition of Independent Scholars, 125 Putney Road, Battleboro, VT 05301, United States.
Existing cardiovascular studies tend to suffer from small sample sizes and unaddressed confounders. Re-profiling of 9 microarray datasets revealed significant global gene expression differences between 358 failing and 191 non-failing left ventricles independent of age and sex ( = 5.1e-10).
View Article and Find Full Text PDFJ Surg Case Rep
January 2025
Department of Cardiac Surgery, Royal Papworth Hospital, Papworth Road, Cambridge Biomedical Campus, Cambridge, Cambridgeshire CB2 0AY, United Kingdom.
A 44-year-old gentleman presented with severe ischemic cardiomyopathy and mitral regurgitation post-inferior myocardial infarction. Echocardiography and magnetic resonance imaging revealed a dilated left ventricle with a large left ventricular aneurysm (9.3 × 9.
View Article and Find Full Text PDFJ Mol Cell Cardiol Plus
March 2025
Baker Heart and Diabetes Institute, Melbourne, VIC, Australia.
We previously reported that plasmalogens, a class of phospholipids, were decreased in a setting of dilated cardiomyopathy (DCM). Plasmalogen levels can be modulated via a dietary supplement called alkylglycerols (AG) which has demonstrated benefits in some disease settings. However, its therapeutic potential in DCM remained unknown.
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