A Bioinformatic Study of Genetics Involved in Determining Mild Traumatic Brain Injury Severity and Recovery

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Hauptverfasser: Tajik, Mahnaz, Noseworthy, Michael D
Format: Preprint
Veröffentlicht: 2025
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author Tajik, Mahnaz
Noseworthy, Michael D
author_facet Tajik, Mahnaz
Noseworthy, Michael D
contents Aim: This in silico study sought to identify specific biomarkers for mild traumatic brain injury (mTBI) through the analysis of publicly available gene and miRNA databases, hypothesizing their influence on neuronal structure, axonal integrity, and regeneration. Methods: This study implemented a three-step process: (1) Data searching for mTBI-related genes in Gene and MalaCard databases and literature review ; (2) Data analysis involved performing functional annotation through GO and KEGG, identifying hub genes using Cytoscape, mapping protein-protein interactions via DAVID and STRING, and predicting miRNA targets using miRSystem, miRWalk2.0, and mirDIP (3) RNA-sequencing analysis applied to the mTBI dataset GSE123336. Results: Eleven candidate hub genes associated with mTBI outcome were identified: APOE, S100B, GFAP, BDNF, AQP4, COMT, MBP, UCHL1, DRD2, ASIC1, and CACNA1A. Enrichment analysis linked these genes to neuron projection regeneration and synaptic plasticity. miRNAs linked to the mTBI candidate genes were hsa-miR-9-5p, hsa-miR-204-5p, hsa-miR-1908-5p, hsa-miR-16-5p, hsa-miR-10a-5p, has-miR-218-5p, has-miR-34a-5p, and has-miR-199b-5p. The RNA sequencing revealed 2664 differentially expressed miRNAs post-mTBI, with 17 showing significant changes at the time of injury and 48 hours post-injury. Two miRNAs were positively correlated with direct head hits. Conclusion: Our study indicates that specific genes and miRNAs, particularly hsa-miR-10a-5p, may influence mTBI outcomes. Our research may guide future mTBI diagnostics, emphasizing the need to measure and track these specific genes and miRNAs in diverse cohorts.
format Preprint
id arxiv_https___arxiv_org_abs_2505_00572
institution arXiv
publishDate 2025
record_format arxiv
spellingShingle A Bioinformatic Study of Genetics Involved in Determining Mild Traumatic Brain Injury Severity and Recovery
Tajik, Mahnaz
Noseworthy, Michael D
Genomics
Neurons and Cognition
Aim: This in silico study sought to identify specific biomarkers for mild traumatic brain injury (mTBI) through the analysis of publicly available gene and miRNA databases, hypothesizing their influence on neuronal structure, axonal integrity, and regeneration. Methods: This study implemented a three-step process: (1) Data searching for mTBI-related genes in Gene and MalaCard databases and literature review ; (2) Data analysis involved performing functional annotation through GO and KEGG, identifying hub genes using Cytoscape, mapping protein-protein interactions via DAVID and STRING, and predicting miRNA targets using miRSystem, miRWalk2.0, and mirDIP (3) RNA-sequencing analysis applied to the mTBI dataset GSE123336. Results: Eleven candidate hub genes associated with mTBI outcome were identified: APOE, S100B, GFAP, BDNF, AQP4, COMT, MBP, UCHL1, DRD2, ASIC1, and CACNA1A. Enrichment analysis linked these genes to neuron projection regeneration and synaptic plasticity. miRNAs linked to the mTBI candidate genes were hsa-miR-9-5p, hsa-miR-204-5p, hsa-miR-1908-5p, hsa-miR-16-5p, hsa-miR-10a-5p, has-miR-218-5p, has-miR-34a-5p, and has-miR-199b-5p. The RNA sequencing revealed 2664 differentially expressed miRNAs post-mTBI, with 17 showing significant changes at the time of injury and 48 hours post-injury. Two miRNAs were positively correlated with direct head hits. Conclusion: Our study indicates that specific genes and miRNAs, particularly hsa-miR-10a-5p, may influence mTBI outcomes. Our research may guide future mTBI diagnostics, emphasizing the need to measure and track these specific genes and miRNAs in diverse cohorts.
title A Bioinformatic Study of Genetics Involved in Determining Mild Traumatic Brain Injury Severity and Recovery
topic Genomics
Neurons and Cognition
url https://arxiv.org/abs/2505.00572