Current progress in the therapeutic options for mitochondrial disorders

0536888 - FGÚ 2021 RIV CZ eng J - Journal Article
Koňaříková, Eliška - Marković, Aleksandra - Korandová, Zuzana - Houštěk, Josef - Mráček, Tomáš
Current progress in the therapeutic options for mitochondrial disorders.
Physiological Research. Roč. 69, č. 6 (2020), s. 967-994. ISSN 0862-8408. E-ISSN 1802-9973
R&D Projects: GA MZd(CZ) NV19-07-00149
Institutional support: RVO:67985823
Keywords : mitochondria * OXPHOS * mitochondrial diseases * gene therapy * mitochondrial donation
OECD category: Human genetics
Impact factor: 1.881, year: 2020
Method of publishing: Open access
https://www.biomed.cas.cz/physiolres/pdf/2020/69_967.pdf

Mitochondrial disorders manifest enormous genetic and clinical heterogeneity - they can appear at any age, present with various phenotypes affecting any organ, and display any mode of inheritance. What mitochondrial diseases do have in common, is impairment of respiratory chain activity, which is responsible for more than 90 % of energy production within cells. While diagnostics of mitochondrial disorders has been accelerated by introducing Next-Generation Sequencing techniques in recent years, the treatment options are still very limited. For many patients only a supportive or symptomatic therapy is available at the moment. However, decades of basic and preclinical research have uncovered potential target points and numerous compounds or interventions are now subjects of clinical trials. In this review, we focus on current and emerging therapeutic approaches towards the treatment of mitochondrial disorders. We focus on small compounds, metabolic interference, such as endurance training or ketogenic diet and also on genomic approaches.
Permanent Link: http://hdl.handle.net/11104/0314640