Disrupting the Molecular Pathway in Myotonic Dystrophy

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...

Full description

Saved in:
Bibliographic Details
Published in:International journal of molecular sciences 2021-12, Vol.22 (24), p.13225
Main Authors: Xing, Xiaomeng, Kumari, Anjani, Brown, Jake, Brook, John David
Format: Article
Language:English
Subjects:
Abnormalities
Binding sites
CDK12
Cell Nucleus - genetics
Cyclin-dependent kinases
Gene Regulatory Networks
Genes
Humans
Kinases
Mammals
MBNL
molecular mechanism
Muscular dystrophy
Musculoskeletal system
Mutants
Mutation
Myotonic dystrophy
Myotonic Dystrophy - genetics
Peptides
Phosphorylation
Proteins
RAN translation
Regulation
Review
RNA polymerase
RNA Stability
RNA, Messenger - metabolism
Trinucleotide Repeat Expansion
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms222413225