Comprehensive metabolomic/lipidomic characterization of patients with mitochondrial ATP synthase, short-chain acyl-CoA dehydrogenase and combined variant deficiencies
Patients with TMEM70d, SCADd, and TMEM70d-SCADd exhibit distinct metabolic signatures characterized by disturbances in energy metabolism, amino acid degradation, and lipid homeostasis. The combination of TMEM70d and SCADd leads to synergistic metabolic effects, emphasizing the importance of comprehensive metabolic profiling in understanding complex mitochondrial disorders and identifying potential biomarkers for diagnosis and treatment monitoring.
Authors
- David Friedecký (ORCID: https://orcid.org/0000-0002-3448-9073)
- Barbora Piskláková (ORCID: https://orcid.org/0000-0001-6962-0775)
- Aleš Kvasnička (ORCID: https://orcid.org/0000-0001-5973-316X)
- Dana Dobešová (ORCID: https://orcid.org/0000-0001-9357-414X)
- Katarína Brennerová
- Matúš Prídavok
- Jana Šaligová
- Radana Brumarová (ORCID: https://orcid.org/0000-0003-1180-6977)
- Eliška Ivanovová (ORCID: https://orcid.org/0000-0003-0688-8242)
- Simona Drobňaková
- Jana Potočňáková
- Ľudmila Potočňáková
Institutions
- University of Pavol Jozef Šafárik (SK)
- Charles University (CZ)
- University of Veterinary Medicine in Košice (SK)
- National Institute of Cardiovascular Diseases (SK)
- University Hospital Olomouc (CZ)
- Palacký University Olomouc (CZ)
Publication Details
- Journal
- Heliyon
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1016/j.heliyon.2025.e42797
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00