Circulating miR-133a-3p and miR-451a as potential biomarkers for diagnosis of coronary artery disease.

Background: Coronary artery disease (CAD) remains the leading cause of mortality and morbidity around the world. Despite significant progress in the diagnosis and treatment of cardiovascular diseases, still there is a clinical need to identify novel biomarkers for early diagnosis and treatment of CAD. The aim of the study is to investigate circulating miRNAs in CAD patients to identify potential biomarkers for early detection and therapeutic management of CAD.

Novel Mutations in Indian Population with Cardiomyopathies.

Background: Mutations in Myosin Binding Protein C () are one of the most frequent causes of cardiomyopathies in the world, but not much data are available in India.

Methods: We carried out targeted direct sequencing of in 115 hypertrophic (HCM) and 127 dilated (DCM) cardiomyopathies against 197 ethnically matched healthy controls from India.

Results: We detected 34 single nucleotide variations in , of which 19 were novel.

The microbiome and rheumatic heart disease: current knowledge and future perspectives.

Rheumatic heart disease (RHD) is a cardiovascular disease caused by an autoimmune response to group A Streptococcus (GAS) infection resulting in the damage of heart valves. RHD is the most commonly acquired heart disease among children and young adults with a global burden of over 40 million cases accounting for 306,000 deaths annually. Inflammation in the heart valves caused due to molecular mimicry between the GAS antigens and host cardiac proteins is facilitated by cytokines, cross-reactive antibodies and CD4 T cells.

Novel Mutations in β- Gene in Indian Patients With Dilated Cardiomyopathy.

Background: Heart failure is a hallmark of severe hypertrophic cardiomyopathy and dilated cardiomyopathy (DCM). Several mutations in the gene lead to hypertrophic cardiomyopathy. Recently, causative mutations in the gene have also been detected in DCM from different populations.

Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease with preserved or increased ejection fraction in the absence of secondary causes. Mutations in the sarcomeric protein-encoding genes predominantly cause HCM. However, relatively little is known about the genetic impact of signalling proteins on HCM.

Association of HLA-DRB1 Alleles with Rheumatic Fever and Rheumatic Heart Disease: A Meta-analysis.

Background: Rheumatic fever (RF) and its sequel rheumatic heart disease (RHD) is an autoimmune disease caused by an abnormal host immune response to group A streptococcus (GAS) infection. The HLA class II molecules are entailed in immune-mediated infectious, inflammatory, and autoimmune diseases including RHD. However, HLA class II genes are reported to be associated with RF/RHD across different populations with a very little consistency.

Rutin ameliorates metabolic acidosis and fibrosis in alloxan induced diabetic nephropathy and cardiomyopathy in experimental rats.

Diabetic nephropathy and cardiomyopathy are two major causes of mortality among patients with diabetes mellitus (DM). Since current diabetic medications are associated with various side effects, the naturally occurring plant-derived compounds are in demand. Bioflavonoids originating from vegetables and medicinal plants have beneficial effects on diabetes by improving glycemic control, lipid metabolism, and anti-oxidant status.

Intramuscular Immunization of Streptococcus pyogenes SF370 protein extract and identification of multiple virulence factors through proteomic profiling in RHD induced Balb/c mice.

Group A streptococcus (GAS) and autoimmunity are associated with heart related mitral valve damage, in adults. In this study Balb/c mice were intramuscularly immunized with S. pyogenes SF370 for 4 weeks.

Mitochondrial genome variations in idiopathic dilated cardiomyopathy.

Idiopathic dilated cardiomyopathy (DCM) is a structural heart disease with strong genetic background. The aim of this study was to assess the role of mitochondrial DNA (mtDNA) variations and haplogroups in Indian DCM patients. Whole mtDNA analysis of 221 DCM patients revealed 48 novel, 42 disease-associated and 97 private variations.

Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.

Thiamine-responsive megaloblastic anemia (TRMA), an autosomal recessive disorder, is caused by mutations in SLC19A2 gene encodes a high affinity thiamine transporter (THTR-1). The occurrence of TRMA is diagnosed by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Here, we report a female TRMA patient of Indian descent born to 4th degree consanguineous parents presented with retinitis pigmentosa and vision impairment, who had a novel homozygous mutation (c.

Elevated levels of circulating DNA in cardiovascular disease patients: metagenomic profiling of microbiome in the circulation.

Cardiovascular diseases (CVDs) are the leading cause of death worldwide. An expanding body of evidence supports the role of human microbiome in the establishment of CVDs and, this has gained much attention recently. This work was aimed to study the circulating human microbiome in CVD patients and healthy subjects.

RAF1 mutations in childhood-onset dilated cardiomyopathy.

Dilated cardiomyopathy (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predominating. The cause of a substantial percentage of DCMs remains unknown, and no gene-specific therapy is available. On the basis of resequencing of 513 DCM cases and 1,150 matched controls from various cohorts of distinct ancestry, we discovered rare, functional RAF1 mutations in 3 of the cohorts (South Indian, North Indian and Japanese).

Genome sequence of Staphylococcus arlettae strain CVD059, isolated from the blood of a cardiovascular disease patient.

We have isolated a Staphylococcus arlettae strain, strain CVD059, from the blood of a rheumatic mitral stenosis patient. Here, we report the genome sequence and potential virulence factors of this clinical isolate. The draft genome of S.

Prevalence of bacteria in the circulation of cardiovascular disease patients, Madurai, India.

Cardiovascular diseases (CVDs) have a complex aetiology determined by risk factors, which include genetic and environmental factors. Chronic infection and inflammation is reported to be a pathogenic determinant for the development of CVDs. Here, we report the prevalence of bacterial pathogens in the circulation of CVD patients in Madurai, India.

Genetic association of Glutathione peroxidase-1 (GPx-1) and NAD(P)H:Quinone Oxidoreductase 1(NQO1) variants and their association of CAD in patients with type-2 diabetes.

Coronary artery disease (CAD) is a major health concern and the leading cause of death in individuals with type-2 diabetes mellitus (T2DM). Glutathione peroxidase-1 (GPx-1) and NAD(P)H: quinone oxidoreductase (NQO1) are known for its broad range of detoxification. The role of functional variants of these genes in the development of various disorders is proven.

Potential risk modifications of GSTT1, GSTM1 and GSTP1 (glutathione-S-transferases) variants and their association to CAD in patients with type-2 diabetes.

Background: Type-2 diabetes mellitus (T2DM) is a major risk factor for coronary artery disease (CAD) resulting in high morbidity and mortality. Glutathione S-transferases (GSTM1, GSTT1 and GSTP1) are known for their broad range of detoxification and in the metabolism of xenobiotics. Recent studies revealed the relationship of GSTs variants with T2DM and CAD.

Cardiac isoform of alpha 2 macroglobulin and its reliability as a cardiac marker in HIV patients.

Background: Cardiac isoform of alpha 2 macroglobulin (CA2M), a serum protein (182000Mr) has been used as a diagnostic molecular marker for cardiac manifestations in HIV and diabetic patients. This study investigates the reliability of CA2M as an early diagnostic marker for cardiac manifestations in HIV patients and factors that could possibly influence their levels.

Methods: A total of 206 serum samples were analysed from HIV patients with cardiac diseases (68), with non-cardiac ailments (48), opportunistic infections (34) and without other co-morbidities (56).

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.

Heart failure is a leading cause of mortality in South Asians. However, its genetic etiology remains largely unknown. Cardiomyopathies due to sarcomeric mutations are a major monogenic cause for heart failure (MIM600958).

Promoter hypermethylation analysis in myelodysplastic syndromes: diagnostic & prognostic implication.

Background & Objective: Myelodysplastic syndromes (MDS) are a heterogenous group of haematopoietic stem cell disorders that are multifactorial in their aetiology. Unique genetic alterations in combinations or in isolation account for a small fraction of MDS suggesting the epigenetic hypermethylation as a possible leading cause for MDS and its transformation to acute myelocytic leukaemia (AML). Therefore, in this study, promoter hypermethylation status of key cell cycle regulators was assessed as markers in MDS patients and association of hypermethylation with clinical progression of disease was also studied.

ACE I/D polymorphism in Indian patients with hypertrophic cardiomyopathy and dilated cardiomyopathy.

Aim: The study was carried to determine the association of angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism with the risk of hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM).

Methods And Results: A total of 174 patients diagnosed with cardiomyopathy (118 with HCM, 51 with DCM, and 5 with RCM) and 164 ethnically, age- and gender-matched controls were included in the study. ACE I/D genotyping was performed by PCR.

Cardiac isoform of alpha 2 macroglobulin, an early diagnostic marker for cardiac manifestations in AIDS patients.

This study investigated the possible role of the cardiac isoform of alpha 2-macroglobulin (CA2M) as an early diagnostic marker for HIV-associated cardiovascular manifestations. A total of 349 samples were analysed by Western blot and quantified by sandwich enzyme-linked immunosorbent assay. The levels of CA2M present in sera of HIV-associated cardiac diseases were significantly higher than those of HIV without cardiac involvement and healthy sera.

Cardiac isoform of alpha-2 macroglobulin as a novel diagnostic marker for cardiac diseases.

Background: Earlier we showed cardiac isoform of alpha-2 macroglobulin (CA2M) to be an early marker of cardiac hypertrophy.

Design: In this study, we tried to explore the possibility of using this protein as a marker for diagnosis of cardiac diseases.

Methods: A total of 593 samples were analyzed for the presence of CA2M using sandwich enzyme-linked immunosorbent assay.

Cardiac isoform of alpha-2 macroglobulin--a new biomarker for myocardial infarcted diabetic patients.

Cardiac isoform of alpha-2 macroglobulin [cardiac alpha2M] has been shown to be an early marker in cardiac hypertrophy and left ventricular mass in humans. We, here, for the first time report its presence in myocardial infarcted humans and tried to explore the possibility of using this protein as a novel diagnostic marker for myocardial infarcted diabetic patients. A total of 260 samples were analyzed in this study for the presence of cardiac alpha2M.