Muscle-specific gene editing improves molecular and phenotypic defects in a mouse model of myotonic dystrophy type 1.

ABSTRACT:

Background

Myotonic dystrophy type 1 (DM1) is a genetic multisystemic disease, characterised by pleiotropic symptoms that exhibit notable variability in severity, nature and age of onset. The genetic cause of DM1 is the expansion of unstable CTG-repeats in the 3' untranslated region (UTR) of the DMPK gene, resulting in the accumulation of toxic CUG-transcripts that sequester RNA-binding proteins and form nuclear foci in DM1 affected tissues and, consequently, alter various cellular processes. Therapeutic gene editing for treatment of monogenic diseases is a powerful technology that could in principle remove definitively the disease-causing genetic defect. The precision and efficiency of the molecular mechanisms are still under investigation in view of a possible use in clinical pra

SUBMITTER: Izzo M 

PROVIDER: S-EPMC11830570 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature