Journal Article Meta-Analysis Epublish 3 citations
PubMed: 38796645 DOI: 10.1038/s42003-024-06325-z
Meta-analysis towards FSHD reveals misregulation of neuromuscular junction, nuclear envelope, and spliceosome.
Commun Biol 7(1):640
Authors: Teresa Schätzl, Vanessa Todorow, Lars Kaiser, Helga Weinschrott, Benedikt Schoser, Hans-Peter Deigner, Peter Meinke, Matthias Kohl
Affiliations
- Institute of Precision Medicine, Furtwangen University, Furtwangen, Germany.
- Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig Maximilian University, Munich, Germany.
- Faculty of Science, Eberhard-Karls-University Tuebingen, Tuebingen, Germany.
- EXIM Department, Fraunhofer Institute IZI (Leipzig), Rostock, Germany.
- Institute of Precision Medicine, Furtwangen University, Furtwangen, Germany.
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common autosomal dominant muscle disorders, yet no cure or amelioration exists. The clinical presentation is diverse, making it difficult to identify the actual driving pathomechanism among many downstream events. To unravel this complexity, we performed a meta-analysis of 13 original omics datasets (in total 171 FSHD and 129 control samples). Our approach confirmed previous findings about the disease pathology and specified them further. We confirmed increased expression of former proposed DUX4 biomarkers, and furthermore impairment of the respiratory chain. Notably, the meta-analysis provides insights about so far not reported pathways, including misregulation of neuromuscular junction protein encoding genes, downregulation of the spliceosome, and extensive alterations of nuclear envelope protein expression. Finally, we developed a publicly available shiny app to provide a platform for researchers who want to search our analysis for genes of interest in the future.
MeSH
Genes, Biological Science Disciplines, Nuclear Envelope, Spliceosomes, Neuromuscular Junction