P012: Untargeted proteomics greatly aides the functional diagnosis of mitochondrial aminoacyl-tRNA synthetases (ARS2s)
Mitochondria have their own protein translation machinery to synthesize the respiratory chain subunit proteins that are encoded on mitochondrial DNA. This includes proteins to charge the corresponding mitochondrial tRNAs with their cognate amino acid, which includes the mitochondrial aminoacyl-tRNA synthetases (ARS2 proteins), and the GatCAB system for tRNAGln, in total encompassing 22 nuclear encoded proteins. The disorders of each of these proteins present with a wide variety of clinical symptoms and represent a relatively frequent group of mitochondrial disorders.
Authors
- Richard Reisdorph
- David A. Stroud (ORCID: https://orcid.org/0000-0002-2048-3383)
- Roxanne Van Hove
- Cole R. Michel (ORCID: https://orcid.org/0000-0002-9058-7495)
- Johan Van Hove
- Marisa W. Friederich (ORCID: https://orcid.org/0000-0003-0902-5565)
- Daniella H. Hock (ORCID: https://orcid.org/0000-0002-6940-4420)
- Jessica Lee (ORCID: https://orcid.org/0000-0002-3788-5741)
- Meijia Yang (ORCID: https://orcid.org/0009-0000-8928-5249)
Institutions
- The University of Melbourne (AU)
- University of Colorado System (US)
- University of Montana (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102856
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00