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2022, Número 1

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Investigación en Discapacidad 2022; 8 (1)


El papel de los RNAs no-codificantes en la patogénesis de la distrofia miotónica tipo 1

Murillo-Melo NM, Borbolla-Jiménez FV, Hernández-Hernández O, J MJ

Idioma: Ingles.
Referencias bibliográficas: 62
Paginas: 29-38
Archivo PDF: 239.12 Kb.


RESUMEN

La distrofia miotónica tipo 1 (DM1) es la distrofia muscular más común en adultos con una prevalencia de 1/8,000 a nivel mundial. La DM1 es un trastorno multisistémico con una patofisiología compleja. El procesamiento alternativo es el mecanismo con el mayor impacto en la patogénesis y el más estudiado actualmente. Sin embargo, se ha descrito que otros mecanismos como desregulación de RNAs no-codificantes (ncRNAs) contribuyen a la patogénesis. Los ncRNAs, particularmente miRNAs, participan en el desarrollo, diferenciación y regeneración del tejido muscular en DM1. El potencial papel de algunos miRNAs como biomarcadores de DM1 ha sido revelado a partir de estudios con suero de pacientes. Estudios más recientes describieron la presencia de RNA antisentido, ahora clasificados como lncRNA, con un potencial papel en la formación de siRNAs, modificador de la cromatina y mecanismos de traducción RAN. No obstante, lncRNAs no han sido descritos en DM1 y, por lo tanto, podría ser interesante la investigación del papel que juegan en esta enfermedad. Parece que ncRNAs juegan un papel importante en DM1, adicionando nuevos elementos a los mecanismos descritos previamente, lo cual mejora nuestro entendimiento de esta enfermedad compleja, dejando mucho aún por descubrir.


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