Department Of Human Genetics And Molecular Medicine

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Author: search.filters.author.Jain, Arushi

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    Targeting mitochondria in the regulation of neurodegenerative diseases: A comprehensive review
    (John Wiley and Sons Inc, 2022-07-20T00:00:00) Maurya, Shashank Kumar; Gupta, Suchi; Bakshi, Amrita; Kaur, Harpreet; Jain, Arushi; Senapati, Sabyasachi; Baghel, Meghraj Singh
    Mitochondria are one of the essential cellular organelles. Apart from being considered as the powerhouse of the cell, mitochondria have been widely known to regulate redox reaction, inflammation, cell survival, cell death, metabolism, etc., and are implicated in the progression of numerous disease conditions including neurodegenerative diseases. Since brain is an energy-demanding organ, mitochondria and their functions are important for maintaining normal brain homeostasis. Alterations in mitochondrial gene expression, mutations, and epigenetic modification contribute to inflammation and neurodegeneration. Dysregulation of reactive oxygen species production by mitochondria and aggregation of proteins in neurons leads to alteration in mitochondria functions which further causes neuronal death and progression of neurodegeneration. Pharmacological studies have prioritized mitochondria as a possible drug target in the regulation of neurodegenerative diseases. Therefore, the present review article has been intended to provide a comprehensive understanding of mitochondrial role in the development and progression of neurodegenerative diseases mainly Alzheimer's, Parkinson's, multiple sclerosis, and amyotrophic lateral sclerosis followed by possible intervention and future treatment strategies to combat mitochondrial-mediated neurodegeneration. � 2022 Wiley Periodicals LLC.
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    Epidemiology and genetics of granulomatosis with polyangiitis
    (Springer Science and Business Media Deutschland GmbH, 2021-10-11T00:00:00) Banerjee, Pratibha; Jain, Arushi; Kumar, Uma; Senapati, Sabyasachi
    Granulomatosis with polyangiitis (GPA) previously known as Wegener�s granulomatosis (WG)�is a rare rheumatic disease affecting subjects of all ages. Prevalence and incidence of this systemic disease greatly varies across different ethnic groups. GPA is the commonest form of ANCA-associated vasculitis (AAV) with PR3 positivity among 85�95% of the cases. Scientific investigations of GPA is warranted because�its severity, clinical heterogeneity, fast disease manifestation and end-organ damage. The etiology of GPA is still unknown. Major role of HLA and non-HLA genes with immune functions were identified, however, very limited replication was observed in different ethnic populations. In the present review, we have discussed the updates on the global epidemiology and contribution of HLA and major non-HLA genes/loci in GPA. We have also highlighted the cross disease association of GPA associated genes that may help in better disease management and predictive medicine. We proposed that high-resolution HLA typing and development of genetic risk model would help in early disease diagnosis and understanding the prognosis. � 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.