RT info:eu-repo/semantics/bachelorThesis
T1 Mutaciones causantes de hipomagnesemia con hipocalcemia secundaria: predicción in silico de su efecto en el procesamiento del ARNm y aproximaciones terapéuticas específicas de ARN
A1 Dorta Pérez, Cynthia
A2 Grado En Farmacia
K1 Hipomagnesemia
K1 Hipocalcemia
K1 Mutaciones
K1 Gen TRPM6
K1 Terapias basadas en ARN
AB Hypomagnesaemia with secondary hypocalcemia is a rare autosomal recessive disease characterized by magnesium deficiency, caused by mutations in the TRPM6 gene and for which there is no specific treatment beyond the administration of high doses of magnesium for life. RNA-based therapies are a new technology to prevent and combat diseases, including rare and ultra-rare ones, such as HSH. The objective of this work is to review the main RNA-based therapies and to carry out a computational study of the missense, synonymous and splicing mutations that cause HSH, which allows us to determine if any of them potentially affects at the RNA level, and we will discuss the possible applicability of some of the therapies described in certain cases of HSH.  For the bibliographic review of RNA-specific therapies, the information collected corresponds to studies that have been published in the last 10 years in journals that are relatively relevant, and a series of bioinformatic tools were used for the in silico analysis. According to our in silico analysis of HSH-causing mutations, some of the exonic missense and synonymous mutations, in addition to all the intronic ones, could be affecting the splicing process, preventing the recognition by the spliceosome of the donor or acceptor site, and these patients could be potentially treated with RNA based therapies.
YR 2022
FD 2022
LK http://riull.ull.es/xmlui/handle/915/29967
UL http://riull.ull.es/xmlui/handle/915/29967
LA es
DS Repositorio institucional de la Universidad de La Laguna
RD 16-abr-2024