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Strategies for fighting mitochondrial diseases
Viscomi, C. ; Zeviani, M.
Journal of internal medicine, 2020-06, Vol.287 (6), p.665-684
[Periódico revisado por pares]
England: Blackwell Publishing Ltd
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Título:
Strategies for fighting mitochondrial diseases
Autor:
Viscomi, C.
;
Zeviani, M.
Assuntos:
AAV
;
Animals
;
antioxidants
;
Antioxidants - therapeutic use
;
autophagy
;
Biosynthesis
;
Cell therapy
;
Enzymes
;
experimental therapy
;
Gene therapy
;
Genes
;
Genetic Therapy
;
Humans
;
Lipids
;
Mitochondria
;
Mitochondria - drug effects
;
Mitochondria - genetics
;
Mitochondria - metabolism
;
mitochondrial biogenesis
;
mitochondrial disease
;
Mitochondrial Diseases - drug therapy
;
Mitochondrial Diseases - genetics
;
Mitochondrial Diseases - metabolism
;
Mitochondrial Diseases - therapy
;
Mitochondrial DNA
;
Mutation
;
Nucleotides - therapeutic use
;
Oxidative phosphorylation
;
Phosphorylation
;
Prostheses
;
Prosthetic groups
;
Proteins
;
Quality control
;
rRNA
;
Therapeutic applications
;
Translational Medical Research
;
tRNA
É parte de:
Journal of internal medicine, 2020-06, Vol.287 (6), p.665-684
Notas:
Content List
Read more articles from the symposium: “Mitochondria in human disease”.
Descrição:
Mitochondrial diseases are extremely heterogeneous genetic conditions characterized by faulty oxidative phosphorylation (OXPHOS). OXPHOS deficiency can be the result of mutation in mtDNA genes, encoding either proteins (13 subunits of the mitochondrial complexes I, III, IV and V) or the tRNA and rRNA components of the in situ mtDNA translation. The remaining mitochondrial disease genes are in the nucleus, encoding proteins with a huge variety of functions, from structural subunits of the mitochondrial complexes, to factors involved in their formation and regulation, components of the mtDNA replication and expression machinery, biosynthetic enzymes for the biosynthesis or incorporation of prosthetic groups, components of the mitochondrial quality control and proteostasis, enzymes involved in the clearance of toxic compounds, factors involved in the formation of the lipid milieu, etc. These different functions represent potential targets for ‘general’ therapeutic interventions, as they may be adapted to a number of different mitochondrial conditions. This is in contrast with ‘tailored’, personalized therapeutic approaches, such as gene therapy, cell therapy and organ replacement, that can be useful only for individual conditions. This review will present the most recent concepts emerged from preclinical work and the attempts to translate them into the clinics. The common notion that mitochondrial disorders have no cure is currently challenged by a massive effort of scientists and clinicians, and we do expect that thanks to this intensive investigation work and tangible results for the development of strategies amenable to the treatment of patients with these tremendously difficult conditions are not so far away. Content List ‐ Read more articles from the symposium: “Mitochondria in human disease”.
Editor:
England: Blackwell Publishing Ltd
Idioma:
Inglês
Links
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