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Review
. 2018 Jul 20;62(3):467-481.
doi: 10.1042/EBC20170114. Print 2018 Jul 20.

Emerging therapies for mitochondrial diseases

Michio Hirano  1 , Valentina Emmanuele  2 , Catarina M Quinzii  2
Affiliations
Review

Emerging therapies for mitochondrial diseases

Michio Hirano et al. Essays Biochem. .

Abstract

For the vast majority of patients with mitochondrial diseases, only supportive and symptomatic therapies are available. However, in the last decade, due to extraordinary advances in defining the causes and pathomechanisms of these diverse disorders, new therapies are being developed in the laboratory and are entering human clinical trials. In this review, we highlight the current use of dietary supplement and exercise therapies as well as emerging therapies that may be broadly applicable across multiple mitochondrial diseases or tailored for specific disorders. Examples of non-tailored therapeutic targets include: activation of mitochondrial biogenesis, regulation of mitophagy and mitochondrial dynamics, bypass of biochemical defects, mitochondrial replacement therapy, and hypoxia. In contrast, tailored therapies are: scavenging of toxic compounds, deoxynucleoside and deoxynucleotide treatments, cell replacement therapies, gene therapy, shifting mitochondrial DNA mutation heteroplasmy, and stabilization of mutant mitochondrial transfer RNAs.

Keywords: Leber Hereditary Optic Neuropathy (LHON); MELAS syndrome; mitochondrial diseases; mitophagy.

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Conflict of interest statement

Competing Interests

MH is a co-inventor on patent applications and holds Orphan Drug Designation (ODD) from the Food and Drug Administration and Rare Pediatric Disease Designation for deoxynucleoside therapy for mitochondrial DNA depletion syndrome including TK2 deficiency. The patent, RDD, and OPDs have been licensed via the Columbia Technology Ventures office to Modis Pharmaceuticals. MH and Columbia University Medical Center (CUMC) have filed patent applications covering the potential use of deoxynucleoside treatment for TK2 deficiency in humans. CUMC has licensed pending patent applications related to the technology to Modis Pharmaceuticals, Inc. and CUMC may be eligible to receive payments related to the development and commercialization of the technology. Any potential licensing fees earned will be paid to CUMC and are shared with MH through CUMC distribution policy. MH is a paid consultant to Modis Pharmaceutical, Inc. The other authors declare no conflicts of interest.

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