Browsing by Author "Silva Gamboa, Christopher Joel"

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    Análisis de variantes de splicing y factores de transcripción (HSF1, CBP y Sp1) en la evolución de la enfermedad de Huntington
    (Universidad Técnica de Ambato. Facultad de Ciencia e Ingeniería en Alimentos y Biotecnología. Carrera de Biotecnología, 2025-02) Silva Gamboa, Christopher Joel; Galarza Galarza, Cristian Fernando
    Huntington's disease (HD) is a neurodegenerative disorder characterized by the expansion of CAG repeats in the HTT (Huntingtin) gene, leading to significant molecular dysfunctions. In the present study, the impact of splicing variants (SV) and transcription factors (TF) on disease progression was investigated using an in-silico approach with sequencing data based on RNA-seq technologies. Differential splicing variants were identified and their possible influence on the generation of aberrant HTT gene isoforms was analysed. Among these variants, the 109CAG condition showed a particularly severe impact on mRNA processing, primarily affecting huntingtin protein stability. In addition, the functional networks of the HSF1, CBP, and Sp1 factors were constructed and analysed. CBP and Sp1 emerged as central nodes, indicating that they play key roles in global epigenetic and genetic regulation, while HSF1 does not show significant connections with the others. These results suggest that interactions between SVs and TFs exacerbate cellular dysfunction, contributing to HD progression. Finally, the research concludes that both splicing variants and transcription factors represent critical components in HD pathogenesis. These findings provide a solid basis for exploring therapeutic interventions aimed at modulating these molecular processes.