Articles written in Journal of Biosciences

    • Human ankyrins and their contribution to disease biology: An update


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      Ankyrins (Ank) are ubiquitously expressed proteins that play a critical role in the integrity of cytoskeleton andcellular signalling. Their presence in metazoans and evolutionary conserved protein primary sequence indicatestheir functional significance. Tissue-specific isoforms and an array of transcript variants make this protein oneof the indispensable cellular components. Membrane-binding domains consist of ankyrin repeats that bind withseveral functional membrane proteins that enable maintaining cellular integrity. Cytosolic ankyrins help incellular signal transduction. Linkage studies and recent genome-wide association studies uncovered thepathogenic roles of ankyrins (ankyrin-R, ankyrin-B and ankyrin-G) in several diseases, such as hereditaryspherocytosis, long QT syndrome, intellectual disability, and CRASH syndrome, among several others.Identification of Ank3 in celiac disease may potentially explain the link between neuronal health and immunity.It is thus warranted to investigate the role of neuronal factors in immune diseases and vice versa. In this review,we briefly discussed the contribution of ankyrin genes to human diseases.

    • Multiple allelic associations from genes involved in energy metabolism were identified in celiac disease


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      Energy metabolism is a critical factor that influences disease pathogenesis. Recent high-throughput genomicstudies have enabled us to look into disease biology with greater details. Celiac disease (CD) is an inflammatoryautoimmune disease where ~60 non-HLA genes were identified which in conjunction with HLA genes explain

      ~55% of the disease heritability. In this study we aimed to identify susceptibility energy metabolism genes andinvestigate their role in CD. We re-analysed published Immunochip genotyping data, which were originallyanalysed for CD association studies in north Indian and Dutch population. 269 energy metabolism genes weretested. Meta-analysis was done for the identified SNPs. To validate the functional implications of identifiedmarkers and/or genes, in silico functional annotation was performed. Six SNPs were identified in north Indians, ofwhich three markers from two loci were replicated in Dutch. rs2071592 (PMeta=5.01e-75) and rs2251824(PMeta=1.87e-14) from ATP6V1G2-NFKBIL1-DDX39B locus and rs4947331 (PMeta= 9.85e-13) from NEU1locus were found significantly associated. Identified genes are key regulators of cellular energy metabolism andassociated with several immune mediated diseases. In silico functional annotation showed significant biologicalrelevance of these novel markers and genes. FDI approved therapeutics against ATP6V1G2 and NEU1 arecurrently in use to treat chronic and inflammatory diseases. This study identified two pathogenic loci, originallyinvolved in energy metabolism. Extensive investigation showed their synergistic role in CD pathogenesis bypromoting immune mediated enteric inflammation. Proposed CD pathogenesis model in this study needs to betested through tissue-on-chip and in vivo methods to ensure its translational application.

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