Increased <i>METTL3</i> Expression and m6A Methylation in Myoblasts of Facioscapulohumeral Muscular Dystrophy.

ABSTRACT: Facioscapulohumeral muscular dystrophy (FSHD) is caused by the aberrant expression of the double homeobox 4 (DUX4) gene. In this study, an analysis of human FSHD muscle biopsies revealed differential expressions of six m6A regulators, including writers, readers and eraser proteins. In immortalized human FSHD myoblasts, we found higher levels of mRNA and protein expression of a major m6A regulator, methyltransferase-like protein 3 (METTL3), in comparison with myoblasts from unaffected siblings (UASbs). Quantification of the overall RNA m6A levels in the FSHD myoblasts revealed significant elevation compared with their UASb, which was reversed to UASb levels following treatment with an antisense oligonucleotide targeting the DUX4 mRNA. Using Oxford Nanopore direct-RNA se

SUBMITTER: Settas N 

PROVIDER: S-EPMC12155334 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature