Nature Communications (Feb 2020)
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
- Alessandro Luciani,
- Anke Schumann,
- Marine Berquez,
- Zhiyong Chen,
- Daniela Nieri,
- Mario Failli,
- Huguette Debaix,
- Beatrice Paola Festa,
- Natsuko Tokonami,
- Andrea Raimondi,
- Alessio Cremonesi,
- Diego Carrella,
- Patrick Forny,
- Stefan Kölker,
- Francesca Diomedi Camassei,
- Francisca Diaz,
- Carlos T. Moraes,
- Diego Di Bernardo,
- Matthias R. Baumgartner,
- Olivier Devuyst
Affiliations
- Alessandro Luciani
- Institute of Physiology and NCCR Kidney.CH, University of Zurich
- Anke Schumann
- Institute of Physiology and NCCR Kidney.CH, University of Zurich
- Marine Berquez
- Institute of Physiology and NCCR Kidney.CH, University of Zurich
- Zhiyong Chen
- Institute of Physiology and NCCR Kidney.CH, University of Zurich
- Daniela Nieri
- Institute of Physiology and NCCR Kidney.CH, University of Zurich
- Mario Failli
- Department of Biomedicine, University of Eastern Finland
- Huguette Debaix
- Institute of Physiology and NCCR Kidney.CH, University of Zurich
- Beatrice Paola Festa
- Institute of Physiology and NCCR Kidney.CH, University of Zurich
- Natsuko Tokonami
- Institute of Physiology and NCCR Kidney.CH, University of Zurich
- Andrea Raimondi
- San Raffaele Scientific Institute, Experimental Imaging Center
- Alessio Cremonesi
- Division of Clinical Chemistry and Biochemistry, University Children’s Hospital Zurich
- Diego Carrella
- Telethon Institute of Genetics and Medicine
- Patrick Forny
- Division of Metabolism and Children’s Research Center, University Children’s Hospital
- Stefan Kölker
- Division of Inherited Metabolic Diseases, University Children’s Hospital Heidelberg
- Francesca Diomedi Camassei
- Department of Laboratories–Pathology Unit, Bambino Gesù Children’s Hospital
- Francisca Diaz
- Department of Neurology, University of Miami Miller School of Medicine
- Carlos T. Moraes
- Department of Neurology, University of Miami Miller School of Medicine
- Diego Di Bernardo
- Telethon Institute of Genetics and Medicine
- Matthias R. Baumgartner
- Division of Metabolism and Children’s Research Center, University Children’s Hospital
- Olivier Devuyst
- Institute of Physiology and NCCR Kidney.CH, University of Zurich
- DOI
- https://doi.org/10.1038/s41467-020-14729-8
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 21
Abstract
Methylmalonic acidemia is an inherited metabolic disease caused by loss or mutation of the enzyme MMUT. Here the authors use cell and animal models to show that MMUT mutations lead to defective mitophagy and stress in kidney cells, contributing to the pathogenesis in methylmalonic acidemia patients.
