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Current progress in the therapeutic options for mitochondrial disorders
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SYSNO ASEP 0536888 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Current progress in the therapeutic options for mitochondrial disorders Author(s) Koňaříková, Eliška (FGU-C) ORCID, RID
Marković, Aleksandra (FGU-C) RID, ORCID
Korandová, Zuzana (FGU-C) ORCID, RID
Houštěk, Josef (FGU-C) RID, ORCID
Mráček, Tomáš (FGU-C) RID, ORCIDSource Title Physiological Research. - : Fyziologický ústav AV ČR, v. v. i. - ISSN 0862-8408
Roč. 69, č. 6 (2020), s. 967-994Number of pages 28 s. Language eng - English Country CZ - Czech Republic Keywords mitochondria ; OXPHOS ; mitochondrial diseases ; gene therapy ; mitochondrial donation Subject RIV EB - Genetics ; Molecular Biology OECD category Human genetics R&D Projects NV19-07-00149 GA MZd - Ministry of Health (MZ) Method of publishing Open access Institutional support FGU-C - RVO:67985823 UT WOS 000601215600003 EID SCOPUS 85099073078 DOI 10.33549/physiolres.934529 Annotation 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. Workplace Institute of Physiology Contact Lucie Trajhanová, lucie.trajhanova@fgu.cas.cz, Tel.: 241 062 400 Year of Publishing 2021 Electronic address https://www.biomed.cas.cz/physiolres/pdf/2020/69_967.pdf
Number of the records: 1