A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures.

ABSTRACT:

Background

Duchenne muscular dystrophy is a lethal disease caused by lack of dystrophin. Skipping of exons adjacent to out-of-frame deletions has proven to restore dystrophin expression in Duchenne patients. Exon 51 has been the most studied target in both preclinical and clinical settings and the availability of standardized procedures to quantify exon skipping would be advantageous for the evaluation of preclinical and clinical data.

Objective

To compare methods currently used to quantify antisense oligonucleotide-induced exon 51 skipping in the DMD transcript and to provide guidance about the method to use.

Methods

Six laboratories shared blinded RNA samples from Duchenne patient-derived muscle cells treated with different amounts of exon 51 targeting antisense oli

SUBMITTER: Hiller M 

PROVIDER: S-EPMC6168132 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature