Calcitriol increases MBNL1 expression and alleviates myotonic dystrophy phenotypes in HSA^LR mouse models.

ABSTRACT:

Background

Myotonic dystrophy type 1 (DM1), one of the most common forms of adult-onset muscular dystrophy, is caused by abnormally expanded CTG repeats in the 3' untranslated region of the DMPK gene. The CUG repeats transcribed from the expanded CTG repeats sequestrate a splicing factor, MBNL1, causing the clinical symptoms in DM1. Nowadays, only symptomatic treatments are available for DM1, and no rational therapy is available. Recently, upregulation of MBNL1 expression has been found to be one of the promising therapies for DM1.

Methods

All experiments were conducted in the C2C12 myoblasts and HSA^LR mice, a DM1 mouse model. Real-time PCR and western blot were used to detect the mRNA and protein level, respectively. The rotarod exercise, grip strength and hangin

SUBMITTER: Huang K 

PROVIDER: S-EPMC9743610 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature