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Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies

Authors :
Marco Trifuoggi
Giovanni Pagano
Alex Lyakhovich
Pilar Gonzalez-Cabo
Federico V. Pallardó
Laura R. Rodríguez
Pallardo, F. V.
Pagano, G.
Rodriguez, L. R.
Gonzalez-Cabo, P.
Lyakhovich, A.
Trifuoggi, M.
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.

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