Macrophage Migration Inhibitory Factor Gene Polymorphism in Acute Coronary Syndrome.

Background Acute coronary syndrome (ACS) is a result of the interplay between genetic and environmental risk factors. A unique cytokine macrophage migration inhibitory factor (MIF), expressed by inflammatory cells, acts via a cluster of differentiation 74 (CD74) and a cluster of differentiation 44 (CD44) receptors, leading to the recruitment of mononuclear neutrophils and lymphocytes. This cascade results in exaggerated inflammation and atherosclerosis.

Mutation Analysis of Exon 1 in the Hemoglobin Subunit Beta (HBB) Gene in Beta-Thalassemia.

Introduction Thalassemia is a widely prevalent monogenic hematological disorder found worldwide. It exists in two forms: alpha- and beta-thalassemia. Alterations in the hemoglobin subunit beta (HBB) gene cause beta-thalassemia, with missense and point mutations affecting beta-globin synthesis.

Variation in Exon 29 of the NOS1 Gene Does Not Contribute to Parkinson's Disease in the North Karnataka Population.

Introduction: Nitric oxide (NO) overproduction has been found to have neurotoxic effects on the brain. Moreover, in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) induced, the suppression of the NO-synthesizing enzymes, such as neuronal nitric oxide synthase (nNOS) and inducible NOS (iNOS), has neuroprotective benefits in Parkinson's disease (PD). These findings imply that NOS may have a role in regulating the nigral dopaminergic neurons' tolerance to environmental stressors in PD.

Molecular analysis of α-synuclein gene in Parkinson's disease in North Karnataka, India.

Background: Parkinson's disease (PD) is a disabling neurological disorder characterized by progressive degeneration of dopaminergic neurons. Mutations analysis within the α-synuclein gene (SNCA) on chromosome 4 has been reported in the last decade.

Objective: To elucidate the possible role of SNCA gene in the pathogenesis of PD in Indian population specifically in north Karnataka.

Molecular basis of β-thalassemia in Karnataka, India.

In β-thalassemia, point mutations in the β-globin gene are largely responsible for either decreased or no β-globin synthesis. The β-globin gene has three exons and two introns. The molecular characterization of β-thalassemia is absolutely necessary for carrier screening, for genetic counseling, and to offer prenatal diagnosis.