ArticlePloS one2011
Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Nutritional Interventions for Patients with Mitochondrial POLG-Related Diseases: A Systematic Review on Efficacy and Safety.International journal of molecular sciences · 2022Pooled it
- Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.Orphanet journal of rare diseases · 2021Pooled it
- Overlapping and Distinct Physical and Biological Phenotypes in Pure Frailty and Obese Frailty.Bioscience reports · 2024Article
- Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from theInternational journal of molecular sciences · 2023Article
- Therapeutic Approaches to Treat Mitochondrial Diseases: "One-Size-Fits-All" and "Precision Medicine" Strategies.Pharmaceutics · 2020Review
- Metformin delays neurological symptom onset in a mouse model of neuronal complex I deficiency.JCI insight · 2020Article
- Mitochondrial AIF loss causes metabolic reprogramming, caspase-independent cell death blockade, embryonic lethality, and perinatal hydrocephalus.Molecular metabolism · 2020Article
- Exercise Training and Neurodegeneration in Mitochondrial Disorders: Insights From the Harlequin Mouse.Frontiers in physiology · 2020Article
- Physical Exercise and Mitochondrial Disease: Insights From a Mouse Model.Frontiers in neurology · 2019Article
- Mild Impairment of Mitochondrial OXPHOS Promotes Fatty Acid Utilization in POMC Neurons and Improves Glucose Homeostasis in Obesity.Cell reports · 2018Article
- Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency.EBioMedicine · 2017Article
- Article
- A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh SyndromeCell reports · 2015Article
- Mitochondrial Diseases Part III: Therapeutic interventions in mouse models of OXPHOS deficiencies.Mitochondrion · 2015Review
- Article
- Therapies in inborn errors of oxidative metabolism.Trends in endocrinology and metabolism: TEM · 2012Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTherapeutic options in human mitochondrial oxidative phosphorylation (OXPHOS) diseases have been poorly evaluated mostly because of the scarcity of cohorts and the inter-individual variability of disease progression. Thus, while a high fat diet (HFD) is often recommended, data regarding efficacy are limited. Our objectives were 1) to determine our ability to evaluate therapeutic options in the Harlequin OXPHOS complex I (CI)-deficient mice, in the context of a mitochondrial disease with human hallmarks and 2) to assess the effects of a HFD. METHODS AND
findingsBefore launching long and expensive animal studies, we showed that palmitate afforded long-term death-protection in 3 CI-mutant human fibroblasts cell lines. We next demonstrated that using the Harlequin mouse, it was possible to draw solid conclusions on the efficacy of a 5-month-HFD on neurodegenerative symptoms. Moreover, we could identify a group of highly responsive animals, echoing the high variability of the disease progression in Harlequin mice.
conclusionsThese results suggest that a reduced number of patients with identical genetic disease should be sufficient to reach firm conclusions as far as the potential existence of responders and non responders is recognized. They also positively prefigure HFD-trials in OXPHOS-deficient patients.
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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.