ArticleHuman molecular genetics2019
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 67 citations in OpenAlex.
- Trial
- Multi-Omic Insight Into the Molecular Networks of Mitochondrial Dysfunction in the Pathogenesis of Schizophrenia.Schizophrenia bulletin · 2026Article
- On the Feasibility of Clinical Studies with Cross-Linking Mass Spectrometry.Journal of proteome research · 2026Article
- Restoration of Interaction Between Fatty Acid Oxidation and Electron Transport Chain Proteins In Vitro by Addition of Recombinant VLCAD.Biomedicines · 2026Article
- Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts.Journal of inherited metabolic disease · 2026Article
- Mapping key mitochondrial genes in Alzheimer's disease through human tissue and iPSC derived neurons.Scientific reports · 2025Article
- The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.Biomolecules · 2025Review
- Article
- HADHA Regulates Respiratory Complex Assembly and Couples FAO and OXPHOS.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Dental Implications of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Comprehensive Case Report and Literature Review.Clinical case reports · 2024Article
- Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.JCI insight · 2024Article
- Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.Molecular genetics and metabolism · 2023Article
- Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.Human molecular genetics · 2023Article
- Hypermethylation of ACADVL is involved in the high-intensity interval training-associated reduction of cardiac fibrosis in heart failure patients.Journal of translational medicine · 2023Article
- Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs).Molecular genetics and metabolism · 2023Article
- Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.Molecular genetics and metabolism · 2023Article
- ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction.Molecular genetics and metabolism reports · 2022Article
- Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies-A Critical Review.International journal of molecular sciences · 2022Review
- Article
- Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β-oxidation deficient cells: A comparative study.Journal of inherited metabolic disease · 2022Article
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is the most common defect of mitochondrial long-chain fatty acid β-oxidation. Patients present with heterogeneous clinical phenotypes affecting heart, liver and skeletal muscle predominantly. The full pathophysiology of the disease is unclear and patient response to current therapeutic regimens is incomplete. To identify additional cellular alterations and explore more effective therapies, mitochondrial bioenergetics and redox homeostasis were assessed in VLCAD-deficient fibroblasts, and several protective compounds were evaluated. The results revealed cellular and tissue changes, including decreased respiratory chain (RC) function, increased reactive oxygen species (ROS) production and altered mitochondrial function and signaling pathways in a variety of VLCAD-deficient fibroblasts. The mitochondrially enriched electron and free radical scavengers JP4-039 and XJB-5-131 improved RC function and decreased ROS production significantly, suggesting that they are viable candidate compounds to further develop to treat VLCAD-deficient patients.
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