Estrategias terapéuticas frente a la modulación de la expresión del gen TNPO3

Abstract

Abstract: Limb girdle muscular dystrophies (LGMD) are clinically and genetically heterogeneous diseases, presenting diverse clinical symptoms that lead to progressive proximal weakness due to loss of muscle fibers, prevalence is 1/100,000. Autosomal dominant girdle muscular dystrophy 2 (LGMDD2) is a pathology described as a rare disease associated with a mutation in the TNPO3 gene, which results in a non-functional protein with an additional 15 amino acids at the C-terminus. The objective of this work is the standardization of molecular techniques in the use of agomirs as modulating molecules of the expression of the TNPO3 gene for LGMD D2. HeLa cells were used as a biological model, for the standardization of the technique qRT-PCR was performed and the comparative Ct curve method (d2ΔΔCT) was chosen par excellence, where the results obtained show the amplification of the gene of interest (TNPO3 ). By cell transfection, agomir miR-128 was established as a potential candidate for the silencing of mRNA transcripts that would prevent substantial translation of the defective protein in LGMDD2 patients.