Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies.

ABSTRACT: Background/Objectives: Missplicing caused by toxic DMPK-mRNA is described as a hallmark of myotonic dystrophy type 1 (DM1). Yet, there is an expressional misregulation of additional splicing factors described in DM1, and missplicing has been observed in other myopathies. Here, we compare the expressional misregulation of splicing factors and the resulting splicing profiles between three different hereditary myopathies. Methods: We used publicly available RNA-sequencing datasets for the three muscular dystrophies-DM1, facioscapulohumeral muscular dystrophy (FSHD) and Emery-Dreifuss muscular dystrophy (EDMD)-to compare the splicing factor expression and missplicing genome-wide using DESeq2 and MAJIQ. Results: Upregulation of alternative splicing factors and downre

SUBMITTER: Todorow V 

PROVIDER: S-EPMC11940573 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature