Journal: medRxiv
Article Title: Single-Nucleus to Whole Body Phenotyping Reveals Neuromuscular Impairment and Preserved Exercise Adaptations in Long-Term Pediatric HSCT Survivors >10 years after treatment
doi: 10.64898/2026.04.24.26351644
Figure Lengend Snippet: (A) Differentially expressed genes identified by single-nucleus RNA sequencing (snRNAseq) across myonuclear clusters, highlighting EMC7, ATP6V0B, and XRRA1 as significantly altered in HSCT survivors compared with controls. Data are shown in boxplots. (B) Primary muscle stem cell culture (controls: n = 8; HSCT: n = 4). Representative immunofluorescence image of differentiated myotubes from an HSCT survivor, stained for desmin (cyan), myogenin (magenta) and nuclei (white). Fusion index (percentage of nuclei located within multinucleated (≥3 nuclei) desmin-positive myotubes relative to total desmin-positive nuclei). Quantitative PCR (qPCR) data (geometric mean ± SEM) of myogenin. and XRRA1. XRRA1 data were analyzed across three splice forms, two cellular conditions (proliferating cells (PRO) and fusing cells (FUS)), and group (control vs. HSCT) by three-way repeated-measures ANOVA. (C) Representative immunofluorescence image of a muscle biopsy cross-section from a HSCT survivor stained with wheat germ agglutinin (cyan), XRRA1 (magenta), and nuclei (white). Quantification of XRRA1 fluorescence intensity is shown for rested (circles) and exercised (squares) legs from control (4 rested / 4 exercised) and HSCT participants (4 rested / 4 exercised); mean ± SD with individual values.
Article Snippet: Immunofluorescence staining was performed using desmin (AB32362; Abcam) and myogenin (F5D; DSHB).
Techniques: RNA Sequencing, Stem Cell Culture, Immunofluorescence, Staining, Real-time Polymerase Chain Reaction, Control, Fluorescence