Our findings reflect a double hit in the pathophysiology of FRDA: a transcriptional/translational issue, and a profound mitochondrial failure downstream. Leptin upregulation in the skeletal muscle in FRDA may represent a compensatory mechanism of mitochondrial dysfunction, which is amenable to pharmacological boosting. Skeletal muscle transcriptomics is a valuable biomarker to monitor therapeutic interventions in FRDA.
Saturday, April 8, 2023
Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich’s Ataxia
Elisabetta Indelicato, Alexander Kirchmair, Matthias Amprosi, Stephan Steixner, Wolfgang Nachbauer, Andreas Eigentler, Nico Wahl, Galina Apostolova, Anne Krogsdam, Rainer Schneider, Julia Wanschitz, Zlatko Trajanoski, Sylvia Boesch, Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich’s Ataxia, Human Molecular Genetics, 2023;, ddad051, doi:10.1093/hmg/ddad051
