Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model.

ABSTRACT:

Background

Gene editing therapies in development for correcting out-of-frame DMD mutations in Duchenne muscular dystrophy aim to replicate benign spontaneous deletions. Deletion of 45-55 DMD exons (del45-55) was described in asymptomatic subjects, but recently serious skeletal and cardiac complications have been reported. Uncovering why a single mutation like del45-55 is able to induce diverse phenotypes and grades of severity may impact the strategies of emerging therapies. Cellular models are essential for this purpose, but their availability is compromised by scarce muscle biopsies.

Methods

We introduced, as a proof-of-concept, using CRISPR-Cas9 edition, a del45-55 mimicking the intronic breakpoints harboured by a subset of patients of this form of dystrophinopathy (desig

SUBMITTER: Poyatos-Garcia J 

PROVIDER: S-EPMC11443720 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature