Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems

Annual Review of Pathology
Adam J KuszakZarazuela Zolkipli-Cunningham

Abstract

Multisystem metabolic disorders caused by defects in oxidative phosphorylation (OXPHOS) are severe, often lethal, conditions. Inborn errors of OXPHOS function are termed primary mitochondrial disorders (PMDs), and the use of nutritional interventions is routine in their supportive management. However, detailed mechanistic understanding and evidence for efficacy and safety of these interventions are limited. Preclinical cellular and animal model systems are important tools to investigate PMD metabolic mechanisms and therapeutic strategies. This review assesses the mechanistic rationale and experimental evidence for nutritional interventions commonly used in PMDs, including micronutrients, metabolic agents, signaling modifiers, and dietary regulation, while highlighting important knowledge gaps and impediments for randomized controlled trials. Cellular and animal model systems that recapitulate mutations and clinical manifestations of specific PMDs are evaluated for their potential in determining pathological mechanisms, elucidating therapeutic health outcomes, and investigating the value of nutritional interventions for mitochondrial disease conditions.

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Citations

Oct 12, 2018·Biochemical Society Transactions·Caterina Garone, Carlo Viscomi
Jul 28, 2020·Nutrients·Ameyalli M Rodríguez-CanoOtilia Perichart-Perera
Aug 3, 2018·BioResearch Open Access·Walter H MoosKrishna Kodukula
Sep 17, 2020·Nutrients·Francesc Josep García-GarcíaGlòria Garrabou
Oct 27, 2020·Current Opinion in Pediatrics·Isabella BarcelosMarni J Falk
Jul 3, 2021·International Journal of Molecular Sciences·Javier RamónRamon Martí
Aug 31, 2021·Frontiers in Physiology·Ajibola B BakareShilpa Iyer

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