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Mysore, India

Murthy M.N.,University of Mysore | Veerappa A.M.,University of Mysore | Seshachalam K.B.,JSS Hospital | Ramachandra N.B.,University of Mysore
Neurological Research

Background: Parkinson disease (PD) is a neurological disease responsible for a considerable rate of mortality and morbidity in the society. Since the symptoms of the disease appear much later than the actual onset of neuron degeneration, a majority of cases remain undiagnosed until the manifestation of the symptoms. Objectives: In order to investigate the existence of such susceptibility in the population, we analyzed Copy Number Variation (CNV) influences on PD genes in 1715 individuals from 12 different populations. Results: Overall, 16 CNV-PD genes, 3 known to be causal and 13 associated, were found to be significantly enriched. PARK2, was under heavy burden with ~1% of the population containing CNV in the exonic region. The impact of these genes on the genome and disease pathway was analyzed using several genome analysis tools. Protein interaction network of CNV-PD genes revealed a complex interaction of molecules forming a major hub by the α-Synuclein, whose direct interactors, LRRK2, PARK2 and ATP13A2 are under CNV influence. Conclusions: We hypothesize that CNVs may not be the initiating event in the pathogenesis of PD and remain latent until additional secondary hits are acquired and also propose novel genes that may fall under the PD pathway which contribute in pathogenesis. © 2016 Informa UK Limited, trading as Taylor & Francis Group Source

Lucca J.M.,JSS University | Ramesh M.,JSS University | Parthasarathi G.,JSS University | Ram D.,JSS Hospital
Indian Journal of Pharmacology

Diplopia - seeing double - is a symptom with many potential causes, both neurological and ophthalmological. Benzodiazepine induced ocular side-effects are rarely reported. Lorazepam is one of the commonly used benzodiazepine in psychiatric practice. Visual problems associated with administration of lorazepam are rarely reported and the frequency of occurrence is not established. We report a rare case of lorazepam-induced diplopia in a newly diagnosed case of obsessive compulsive disorder. Source

Vishweswaraiah S.,University of Mysore | Veerappa A.M.,University of Mysore | Mahesh P.A.,JSS Hospital | Jahromi S.R.,University of Mysore | Ramachandra N.B.,University of Mysore
Allergy, Asthma and Immunology Research

Purpose: Asthma is a complex disease caused by interplay of genes and environment on the genome of an individual. Copy number variations (CNVs) are more common compared to the other variations that disrupt genome organization. The effect of CNVs on asthma subgenome has been less studied compared to studies on the other variations. We report the assessments of CNV burden in asthma genes of normal cohorts carried out in different geographical areas of the world and discuss the relevance of the observation with respect to asthma pathogenesis. Methods: CNV analysis was performed using Affymerix high-resolution arrays, and various bioinformatics tools were used to understand the influence of genes on asthma pathogenesis. Results: This study identified 61 genes associated with asthma and provided various mechanisms and pathways underlying asthma pathogenesis. CCL3L1, ADAM8, and MUC5B were the most prevalent asthma genes. Among them, CCL3L1 was found across all 12 populations in varying copy number states. This study also identified the inheritance of asthma-CNVs from parents to offspring creating the latent period for manifestation of asthma. Conclusions: This study revealed CNV burden with varying copy number states and identified susceptibility towards the disease manifestation. It can be hypothesized that primary CNVs may not be the initiating event in the pathogenesis of asthma and additional preceding mutations or CNVs may be required. The initiator or primary CNVs sensitize normal cohorts leading to an increased probability of accumulating mutations or exposure to allergic stimulating agents that can augment the development of asthma. © The Korean Academy of Asthma, Allergy and Clinical Immunology. Source

Veerappa A.M.,University of Mysore | Murthy M.,University of Mysore | Vishweswaraiah S.,University of Mysore | Lingaiah K.,University of Mysore | And 9 more authors.

MicroRNAs are involved in post-transcriptional down-regulation of gene expression. Variations in miRNA genes can severely affect downstream-regulated genes and their pathways. However, population-specific burden of CNVs on miRNA genes and the complexities created towards the phenotype is not known. From a total of 44109 CNVs investigated from 1715 individuals across 12 populations using high-throughput arrays, 4007 miRNA-CNVs (,9%) consisting 6542 (,5%) miRNA genes with a total of 333 (,5%) singleton miRNA genes were identified. We found miRNA-CNVs across the genomes of individuals showing multiple hits in many targets, co-regulated under the same pathway. This study proposes four mechanisms unraveling the many complexities in miRNA genes, targets and co-regulated miRNA genes towards establishment of phenotypic diversity.©2014 Veerappa et al. Source

Kusuma L.,University of Mysore | Dinesh S.M.,University of Mysore | Savitha M.R.,Mysore Medical College and Research Institute | Krishnamurthy B.,Mysore Medical College and Research Institute | And 2 more authors.
Genetic Testing and Molecular Biomarkers

Cardiac malformations contribute greatly to cardiovascular disease in the young, constituting a major portion of clinically significant birth defects. Congenital heart disease (CHD) is a common congenital cardiac birth defect, affecting nearly 1% of all live births. Although significant advances have been made in understanding mechanisms controlling heart formation, the causes of most CHD in humans remain undefined in the vast majority of cases. Of the several genes identified for CHD, CRELD1 is an important cell adhesion molecule crucial in cardiac development, which is known to cause atrioventricular septal defect in Down syndrome and also in sporadic forms of atrioventricular septal defect. With informed consent, 100 clinically diagnosed CHD patients and 50 healthy controls in Mysore, South India, were recruited for single-nucleotide polymorphism (SNP) genotyping. MassARRAY analysis of five prominent SNPs of CRELD1 was performed. The analysis revealed the occurrence of the SNP c.985 C>T of CRELD1 in two of CHD patients and not in controls. This SNP shows a change from arginine to cysteine in the second calcium-binding epidermal growth factor (EGF) domain, leading to change in the β-sheet in the secondary structure. Therefore, the SNP c.985 C>T of CRELD1 is involved in causing CHD in patients of Mysore, South India. © 2011, Mary Ann Liebert, Inc. Source

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