Facioscapulohumeral Muscular Dystrophy is Associated With Altered Myoblast Proteome Dynamics.

ABSTRACT: Proteomic studies in facioscapulohumeral muscular dystrophy (FSHD) could offer new insight into disease mechanisms underpinned by post-transcriptional processes. We used stable isotope (deuterium oxide; D₂O) labeling and peptide mass spectrometry to investigate the abundance and turnover rates of proteins in cultured muscle cells from two individuals affected by FSHD and their unaffected siblings (UASb). We measured the abundance of 4420 proteins and the turnover rate of 2324 proteins in each (n = 4) myoblast sample. FSHD myoblasts exhibited a greater abundance but slower turnover rate of subunits of mitochondrial respiratory complexes and mitochondrial ribosomal proteins, which may indicate an accumulation of "older" less viable mitochondrial proteins in myoblasts from individu

SUBMITTER: Nishimura Y 

PROVIDER: S-EPMC10392138 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature