Marie Lucienne, Raffaele Gerlini, Birgit Rathkolb, Julia Calzada-Wack, Patrick Forny, Stephan Wueest, Andres Kaech, Florian Traversi, Merima Forny, Céline Bürer, Antonio Aguilar-Pimentel, Martin Irmler, Johannes Beckers, Sven Sauer, Stefan Kölker, Joseph P Dewulf, Guido T Bommer, Daniel Hoces, Valerie Gailus-Durner, Helmut Fuchs, Jan Rozman, D Sean Froese, Matthias R Baumgartner, Martin Hrabě de Angelis
Inherited disorders of mitochondrial metabolism, including isolated methylmalonic aciduria, present unique challenges to energetic homeostasis by disrupting energy producing pathways. To better understand global responses to energy shortage, we investigated a hemizygous mouse model of methylmalonyl-CoA mutase (Mmut) type methylmalonic aciduria. We found Mmut mutant mice to have reduced appetite, energy expenditure and body mass compared to littermate controls, along with a relative reduction in lean mass but increase in fat mass...
June 27, 2023: Human Molecular Genetics