Nature Communications (Nov 2020)
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease
- Philipp Gut,
- Sanna Matilainen,
- Jesse G. Meyer,
- Pieti Pällijeff,
- Joy Richard,
- Christopher J. Carroll,
- Liliya Euro,
- Christopher B. Jackson,
- Pirjo Isohanni,
- Berge A. Minassian,
- Reem A. Alkhater,
- Elsebet Østergaard,
- Gabriele Civiletto,
- Alice Parisi,
- Jonathan Thevenet,
- Matthew J. Rardin,
- Wenjuan He,
- Yuya Nishida,
- John C. Newman,
- Xiaojing Liu,
- Stefan Christen,
- Sofia Moco,
- Jason W. Locasale,
- Birgit Schilling,
- Anu Suomalainen,
- Eric Verdin
Affiliations
- Philipp Gut
- Gladstone Institutes and University of California
- Sanna Matilainen
- Research Program of Stem Cells and Metabolism, Biomedicum Helsinki, University of Helsinki
- Jesse G. Meyer
- Buck Institute for Research on Aging
- Pieti Pällijeff
- Research Program of Stem Cells and Metabolism, Biomedicum Helsinki, University of Helsinki
- Joy Richard
- Nestlé Research, Institute of Health Sciences, EPFL Innovation Park
- Christopher J. Carroll
- Genetics Research Centre, Molecular and Clinical Sciences, St. George’s, University of London
- Liliya Euro
- Research Program of Stem Cells and Metabolism, Biomedicum Helsinki, University of Helsinki
- Christopher B. Jackson
- Research Program of Stem Cells and Metabolism, Biomedicum Helsinki, University of Helsinki
- Pirjo Isohanni
- Research Program of Stem Cells and Metabolism, Biomedicum Helsinki, University of Helsinki
- Berge A. Minassian
- Program in Genetics and Genome Biology, The Hospital for Sick Children, Institute of Medical Science University of Toronto
- Reem A. Alkhater
- Johns Hopkins Aramco Healthcare
- Elsebet Østergaard
- Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet
- Gabriele Civiletto
- Nestlé Research, Institute of Health Sciences, EPFL Innovation Park
- Alice Parisi
- Nestlé Research, Institute of Health Sciences, EPFL Innovation Park
- Jonathan Thevenet
- Nestlé Research, Institute of Health Sciences, EPFL Innovation Park
- Matthew J. Rardin
- Buck Institute for Research on Aging
- Wenjuan He
- Gladstone Institutes and University of California
- Yuya Nishida
- Gladstone Institutes and University of California
- John C. Newman
- Gladstone Institutes and University of California
- Xiaojing Liu
- Department of Pharmacology and Cancer Biology, Duke University School of Medicine
- Stefan Christen
- Nestlé Research, Institute of Health Sciences, EPFL Innovation Park
- Sofia Moco
- Nestlé Research, Institute of Health Sciences, EPFL Innovation Park
- Jason W. Locasale
- Department of Pharmacology and Cancer Biology, Duke University School of Medicine
- Birgit Schilling
- Buck Institute for Research on Aging
- Anu Suomalainen
- Research Program of Stem Cells and Metabolism, Biomedicum Helsinki, University of Helsinki
- Eric Verdin
- Gladstone Institutes and University of California
- DOI
- https://doi.org/10.1038/s41467-020-19743-4
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 14
Abstract
The pathomechanism of succinyl-CoA ligase (SCL) deficiency, a hereditary mitochondrial disease, is not fully understood. Here, the authors show that increased succinyl-CoA levels contribute to SCL pathology by causing global protein hyper-succinylation.
