Global Repression of Mitochondrial Transcriptome in Huntington’s Disease: An In Silico RNA-Seq Analysis
DOI:
https://doi.org/10.55892/jrg.v9i20.3409Keywords:
Huntington Disease, Energy Metabolism, Mitochondria, Gene Expression Profiling, Transcription, GeneticAbstract
Huntington’s disease (HD) is a neurodegenerative disorder characterized by progressive motor and cognitive decline, in which metabolic failure and mitochondrial dysfunction play a central role in its pathogenesis. This study aimed to identify aberrant transcriptional patterns in genes associated with energy metabolism and mitochondrial function in HD patients using an in silico approach. Differential gene expression data was obtained from public repositories and analyzed with a focus on metabolic pathways and functional enrichment. The results revealed significant downregulation of key mitochondrial genes, particularly those involved in oxidative phosphorylation and ATP synthesis, including MT-ND4 and MT-ATP6. Gene Set Enrichment Analysis (GSEA) demonstrated a disruption of energy metabolism pathways across the cerebral caudate nucleus. These findings suggest that transcriptional dysregulation of mitochondrial components is a hallmark of HD progression and may represent a potential target for therapeutic intervention. In conclusion, the present in silico analysis supports the hypothesis that systemic metabolic failure in HD is driven by a coordinated collapse of mitochondrial transcriptional activity, providing new insights into the molecular mechanisms underlying the disease.
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