ArticleCommunications biology2023
A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Article in Communications biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 12 citations in OpenAlex.
- Cardiac magnetic resonance imaging reveals myocardial fibrosis and systolic dysfunction in mitochondrial trifunctional protein-deficient mice.Disease models & mechanisms · 2026Article
- Dopamine-endocannabinoid crosstalk drives exercise-induced bidirectional plasticity in Parkinson's disease.NPJ Parkinson's disease · 2026Article
- Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Single-Nuclei Transcriptomic Profiling of Human Myocardium in Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency.Circulation. Heart failure · 2026Article
- Hope for a heart's lonesome hunt: metabolic roadblocks and cardiac electrical instability in long-chain fatty acid oxidation deficiency.American journal of physiology. Heart and circulatory physiology · 2026Article
- Acute arrhythmias in a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mouse model.American journal of physiology. Heart and circulatory physiology · 2026Article
- Metabo-epigenetic circuits of heart failure: chromatin-modifying enzymes as determinants of metabolic plasticity.EMBO molecular medicine · 2026Review
- Transcriptomic Changes Underlying the Anti-Steatotic Effects of DHA Supplementation in Aged Obese Female Mice.International journal of molecular sciences · 2025Article
- Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models.EMBO molecular medicine · 2025Review
- Characterizing fatty acid oxidation genes in Drosophila.G3 (Bethesda, Md.) · 2025Article
- Cardiomyopathy in a c.1528G>C Hadha mouse is associated with cardiac tissue lipotoxicity and altered cardiolipin species.Journal of lipid research · 2025Article
- A Focus on the Role of Dietary Treatment in the Prevention of Retinal Dysfunction in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Systematic Review.Children (Basel, Switzerland) · 2025Review
- Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration.PloS one · 2025Article
- The LCHADD Mouse Model Recapitulates Early-Stage Chorioretinopathy in LCHADD Patients.Investigative ophthalmology & visual science · 2024Article
- A review of fatty acid oxidation disorder mouse models.Molecular genetics and metabolism · 2024Review
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Authors and funding
13 authors at 2 institutions in 1 country.
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Abstract
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a fatty acid oxidation disorder (FAOD) caused by a pathogenic variant, c.1528 G > C, in HADHA encoding the alpha subunit of trifunctional protein (TFPα). Individuals with LCHADD develop chorioretinopathy and peripheral neuropathy not observed in other FAODs in addition to the more ubiquitous symptoms of hypoketotic hypoglycemia, rhabdomyolysis and cardiomyopathy. We report a CRISPR/Cas9 generated knock-in murine model of G1528C in Hadha that recapitulates aspects of the human LCHADD phenotype. Homozygous pups are less numerous than expected from Mendelian probability, but survivors exhibit similar viability with wildtype (WT) littermates. Tissues of LCHADD homozygotes express TFPα protein, but LCHADD mice oxidize less fat and accumulate plasma 3-hydroxyacylcarnitines compared to WT mice. LCHADD mice exhibit lower ketones with fasting, exhaust earlier during treadmill exercise and develop a dilated cardiomyopathy compared to WT mice. In addition, LCHADD mice exhibit decreased visual performance, decreased cone function, and disruption of retinal pigment epithelium. Neurological function is affected, with impaired motor function during wire hang test and reduced open field activity. The G1528C knock-in mouse exhibits a phenotype similar to that observed in human patients; this model will be useful to explore pathophysiology and treatments for LCHADD in the future.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.