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Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies
- Source :
- Translational research : the journal of laboratory and clinical medicine, r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA, instname
- Publication Year :
- 2021
- Publisher :
- Elsevier BV, 2021.
-
Abstract
- Friedreichs Ataxia is an autosomal recessive genetic disease causing the defective gene product, frataxin. A body of literature has been focused on the attempts to counteract frataxin deficiency and the consequent iron imbalance, in order to mitigate the disease-associated prooxidant state and clinical course. The present mini review is aimed at evaluating the basic and clinical reports on the roles and the use of a set of iron chelators, antioxidants and some cofactors involved in the key mitochondrial functions. Extensive literature has focused on the protective roles of iron chelators, coenzyme Q10 and analogs, and vitamin E, altogether with varying outcomes in clinical studies. Other studies have suggested mitoprotective roles for other mitochondrial cofactors, involved in Krebs cycle, such as alpha-lipoic acid and carnitine, involved in acyl transport across the mitochondrial membrane. A body of evidence points to the strong antioxidant properties of these cofactors, and to their potential contribution in mitoprotective strategies in Friedreich's Ataxia clinical evolution. Thus, we suggest the rationale for planning combination strategies based on the three mitochondrial cofactors and of some antioxidants and iron binders as mitoprotective cocktails in FRDA patients, calling attention to clinical practitioners of the importance to implement clinical trials. Copyright © 2020. Published by Elsevier Inc.
- Subjects :
- 0301 basic medicine
Ataxia
Ubiquinone
Alpha-Lipoic Acid
Disease
Mitochondrion
Iron Chelating Agents
Bioinformatics
Antioxidants
Linoleic Acid
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Carnitine
Physiology (medical)
Animals
Humans
Medicine
Deferiprone
Inner mitochondrial membrane
Coenzyme Q10
biology
Animal
business.industry
Biochemistry (medical)
Public Health, Environmental and Occupational Health
General Medicine
Mitochondria
Iron Chelating Agent
030104 developmental biology
Linoleic Acids
chemistry
Friedreich Ataxia
030220 oncology & carcinogenesis
Frataxin
biology.protein
Antioxidant
medicine.symptom
business
Human
medicine.drug
Subjects
Details
- ISSN :
- 19315244
- Volume :
- 229
- Database :
- OpenAIRE
- Journal :
- Translational Research
- Accession number :
- edsair.doi.dedup.....11385fe4ae263b314440157ca359a785
- Full Text :
- https://doi.org/10.1016/j.trsl.2020.08.009