Abstract
Neurodegenerative disorders refer to the loss of structure or function of neurons including the death of neurons, whereas cancer refers to the uncontrolled growth of cells. Various studies suggest that there is a strong correlation between various genes involved in neurodegenerative disorders and cancer. ULK1 is an important gene involved in the process of autophagy that leads to the cause of various neurodegenerative disorders. The main objective of the study is to analyze the role of ULK1 in autophagy and determine the ability of the gene to act as a potential biomarker for various neurodegenerative disorders. Mutational and gene expression analysis is done using in silico tools to determine the potency of ULK1 gene to be used as a susceptible marker for neurodegenerative disorders. Tools like mutation taster, polyphen2 and SIFT tool are used for mutational analysis and GWAS Central, GTEx, PhenoScanner and RegulomeDb for the study of gene expression and association of ULK1 gene in diseases and traits. Further validation of ULK1 gene was done through STRING, GeneMania and Cytoscape for the study of association of ULK1 gene with various other genes involved in neurodegeneration and cancer pathways. Result analysis of ULK1 gene through various in silico tools depicts that the mutations occurring in the gene are potentially dangerous and are also predicted to be benign and deleterious. RegulomeDb, GWAS Central, GTEx and PhenoScanner depicted the involvement of ULK1 gene in various parts of brain leading to various mental disorders. The interaction of ULK1 gene and its pathway analysis showed that ULK1 gene interacts with various other genes like ATG, mTOR, RPTOR and many more involved in autophagy pathway. After analysis of results obtained from different in silico tools, it is examined that ULK1 can be used as a potential biomarker for neurodegeneration.
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Acknowledgments
We owe deep gratitude to Prof. P.K. Seth, NASI Senior Scientist, Biotech Park, Lucknow, & the C.E.O, Biotech Park, Lucknow, for their encouragement and support in the study. The support provided by Bioinformatics tools, software’s and databases in the work is also gratefully acknowledged.
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Garg, P., Srivastava, N., Seth, P.K. et al. In Silico Study of ULK1 Gene as a Susceptible Biomarker for Neurodegeneration. Proc. Natl. Acad. Sci., India, Sect. B Biol. Sci. 93, 325–335 (2023). https://doi.org/10.1007/s40011-022-01419-2
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DOI: https://doi.org/10.1007/s40011-022-01419-2