Abstract
Therapies for mitochondrial diseases has been largely limited to supportive and symptomatic therapies; however, in the last decade, advances in understanding the causes and pathomechanisms of these diverse disorders have enabled development of novel treatment strategies. Here, we highlight current use of dietary supplements and exercise therapy as well as emerging treatments in preclinical and clinical trial stages of development. Broad-spectrum therapies that may be applied multiple diseases include: activation of mitochondrial biogenesis, regulation of mitophagy and mitochondrial dynamics, bypass of mitochondrial biochemical defects, mitochondrial replacement therapy, and hypoxia. Tailored disease-specific therapies in development include: scavenging of toxic compounds, deoxynucleoside therapy, cell replacement therapies, viral-mediated gene-delivery, shifting heteroplasmy of mitochondrial DNA pathogenic variants, and stabilization of mitochondrial transfer RNAs.
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Notes
- 1.
This chapter is based upon our published review article (Hirano et al. 2018) available via Open Access (https://portlandpress.com/essaysbiochem/article/62/3/467/78638/Emerging-therapies-for-mitochondrial-diseases) CCBY license ELVJWX.
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Acknowledgements
V.E. has been supported by the North American Mitochondrial Diseases Consortium (NAMDC) fellowship program 2016–2017 (U54 NS NS078059) and has also been supported by L’Oréal- UNESCO for Women in Science 2016, Italy. NAMDC is part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), National Center for Advanced Translational Sciences (NCATS), National Institutes of Health (NIH). NAMDC is jointly funded through an NIH U54 grant mechanism by NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD), and the Office of Dietary Supplements (ODS). C.M.Q and M.H. are supported by NIH grant (P01 HD080642). M.H. is also supported by U54 NS NS078059, the Marriott Mitochondrial Disorders Clinical Research Network; the Nicholas Nunno Fund; the Mileti Fund; the Bernard and Anne Spitzer Fund; and the Finn Foundation.
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Emmanuele, V., Quinzii, C.M., Hirano, M. (2021). Therapies Approaches in Mitochondrial Diseases. In: Navas, P., Salviati, L. (eds) Mitochondrial Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-70147-5_11
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