Browsing by Author "Villafuerte Guastay, Mery Carolina"

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    Análisis de variantes genéticas en la Esclerosis Lateral Amiotrófica (ELA) y diseño de ARN guías (sgARN)
    (Universidad Técnica de Ambato. Facultad de Ciencia e Ingeniería en Alimentos y Biotecnología. Carrera de Biotecnología, 2024-08) Villafuerte Guastay, Mery Carolina; Galarza Galarza, Cristian Fernando
    The present research focuses on Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease characterised by wide genetic variability. More than 40 ALS related genes have been identified, with C9orf72 being the most common, associated in approximately 40 percent of cases. This gene and others such as CBS, FIG4, FUS, OPTN, SETX, SOD1, TARDBP, UBQLN2 and VAPB play a role in the pathogenesis of the disease through mechanisms such as protein aggregate formation and vesicular trafficking dysfunction. Using differential expression analysis with the DataSet GSE833, differentially expressed genes were identified between sporadic ALS, familial ALS and control samples. Results showed greater variability in sporadic ALS samples, suggesting a combination of genetic and environmental factors. Genes such as UBE3A, ARHGAP25, GDF10, SELL, FPR1, SPP2, PTGDR, FURIN, ELN, ITGB2 and BAK1 were highlighted by under- or over-expression, implying alterations in biological processes such as calcium ion regulation, phagocytosis and apoptosis. As an alternative to address these genetic variants, guide RNA (sgRNA) sequences were designed using tools such as CHOPCHOP, CRISPOR and CCTop. These sgRNAs are specific and targeted to the most significant variants in the BAK1, GDF10 and SPP2 genes; GC content, self-complementarity, efficiency and specificity are assessed. The optimal sequence for each variant was selected for future proofreading trials, with the aim of improving the understanding and potential treatment of ALS.