ImpactU Versión 3.11.2 Última actualización: Interfaz de Usuario: 16/10/2025 Base de Datos: 29/08/2025 Hecho en Colombia
Evaluación del mecanismo de internalización y efecto inducido por liposomas y nanopartículas de magnetita en un modelo in vitro para la enfermedad de Tay-Sachs
Lysosomal storage diseases (LDS) are a group of around 70 diseases that are characterized by accumulation of partially or non-degraded substrates due to mutations in genes that encode proteins involved in lysosomal function. One of these EDLs is Tay Sachs disease (TS, OMIM 272800), which is a neurodegenerative disorder of autosomal recessive inheritance, caused by the accumulation of GM2 gangliosides in lysosomes as a consequence of mutations in the gene that codes for the subunit alpha of the enzyme β-Hexosaminidase A. Despite the advances that have been made with different therapeutic alternatives, at the moment there is no approved therapy for the treatment of this disease. One of the proposed strategies consists of correcting the genetic defect by means of gene therapy. Within this strategy one of the main limitations is the genetic material delivery system, among which are both viral and non-viral vectors. The latter offer the advantage of presenting few adverse effects associated with the generation of immune responses or genotoxicity. However, its implementation requires knowledge about its cytotoxicity, as well as the internalization mechanisms. In order to contribute to the generation of new knowledge about the impact of non-viral vectors for gene therapy based on nanoparticles, which can affect cell viability and transfection efficiency, in this work tests were carried out to determine the cytotoxic effect. of nanoemulsions based on anionic lipids on an in vitro model for Tay-Sachs disease as future mechanisms of nucleic acid delivery in gene therapy. Additionally, an updated review of the literature was carried out to know the state of the art on the input mechanisms proposed for inorganic nanoparticles, which are currently, together with liposomes, under development at the Institute of Inborn Errors. Metabolism as delivery vehicles for genetic material.