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      Differential Gene Expression of Nystagmus-Associated Genes in Chronic Traumatic Encephalopathy, Parkinson's Disease, and Alzheimer's Disease

      In review


            Objectives: The research aimed to determine whether the genes that presented with nystagmus as part of their clinical presentation were differentially expressed in the brains of patients with Parkinson’s Disease (PD), Chronic Traumatic Encephalopathy (CTE), and Alzheimer’s Disease (AD).

            Methodology: The data was derived from the available NCBI SRA datasets that allowed public domain use. The RNA sequence from the brain samples of the patients underwent differential expression analysis using the web-based platform Galaxy and R version 4.1.0 with R Studio.

            Results: There were only 19 genes out of the 28,395 retrieved genes in the patient groups and the control group that had significant under-expression in the patient group compared to controls (p<0.001). The genes that were identified can be divided into those involved in protein synthesis, cell cycle regulation, gap junction formation, transcription regulation, signal transduction, and synaptic function.

            Conclusion: Performing differential gene expression studies in the brain samples of post-mortem cases illustrate how autopsy pathology and neuroinformatics can elucidate the common genomic changes and molecular mechanisms that can present across different diseases which may have future significance in the field of both neuro- and ophthalmic pathology.


            Author and article information

            ScienceOpen Preprints
            26 April 2022
            [1 ] SAERA (School of Advanced Education, Research and Accreditation S.L.) University Isabel I de Castilla, Spain
            Author notes
            Author information

            This work has been published open access under Creative Commons Attribution License CC BY 4.0 , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Conditions, terms of use and publishing policy can be found at www.scienceopen.com .

            : 26 April 2022

            The datasets generated during and/or analysed during the current study are available in the repository: https://www.ncbi.nlm.nih.gov/sra
            Neurosciences,Life sciences
            nystagmus, Chronic Traumatic Encephalopathy, Parkinson’s Disease, Alzheimer’s Disease, differential gene expression


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