Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.

ABSTRACT: Late-onset Pompe disease (LOPD) is a rare genetic disorder caused by the deficiency of acid alpha-glucosidase leading to progressive cellular dysfunction owing to the accumulation of glycogen in the lysosome. The mechanism of relentless muscle damage (a classic manifestation of the disease) has been studied extensively by analysing the whole-muscle tissue; however, little, if anything, is known about transcriptional heterogeneity among nuclei within the multinucleated skeletal muscle cells. This is the first report of application of single-nucleus RNA sequencing to uncover changes in the gene expression profile in muscle biopsies from eight patients with LOPD and four muscle samples from age- and sex-matched healthy controls. We matched these changes with histological findings using GeoMx

SUBMITTER: Monceau A 

PROVIDER: S-EPMC11629704 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature