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Current progress in the therapeutic options for mitochondrial disorders
E. Koňaříková, A. Marković, Z. Korandová, J. Houštěk, T. Mráček
Jazyk angličtina Země Česko
Typ dokumentu časopisecké články
Free Medical Journals od 1998
PubMed Central od 2020
ProQuest Central od 2005-01-01
Medline Complete (EBSCOhost) od 2006-01-01
Nursing & Allied Health Database (ProQuest) od 2005-01-01
Health & Medicine (ProQuest) od 2005-01-01
ROAD: Directory of Open Access Scholarly Resources od 1998
Odkazy
PubMed
33129249
DOI
10.33549/physiolres.934529
Knihovny.cz E-zdroje
- MeSH
- genetická terapie metody MeSH
- lidé MeSH
- mitochondriální nemoci genetika metabolismus terapie MeSH
- mitochondrie metabolismus patologie MeSH
- transport elektronů MeSH
- vysoce účinné nukleotidové sekvenování metody MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
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.
Literatura
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