Disrupting the Molecular Pathway in Myotonic Dystrophy.
Int J Mol Sci
; 22(24)2021 Dec 08.
Article
em En
| MEDLINE
| ID: mdl-34948025
ABSTRACT
Myotonic dystrophy is the most common muscular dystrophy in adults. It consists of two forms type 1 (DM1) and type 2 (DM2). DM1 is associated with a trinucleotide repeat expansion mutation, which is transcribed but not translated into protein. The mutant RNA remains in the nucleus, which leads to a series of downstream abnormalities. DM1 is widely considered to be an RNA-based disorder. Thus, we consider three areas of the RNA pathway that may offer targeting opportunities to disrupt the production, stability, and degradation of the mutant RNA.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Expansão das Repetições de Trinucleotídeos
/
Redes Reguladoras de Genes
/
Distrofia Miotônica
Limite:
Humans
Idioma:
En
Revista:
Int J Mol Sci
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Reino Unido