Therapy Prospects for Mitochondrial DNA Maintenance Disorders
Ramón, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Vila-Julià, Ferran (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Molina-Granada, David (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Molina-Berenguer, Miguel (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Melià, Maria Jesús (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Garcia-Arumi, Elena (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Torres-Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Cámara, Yolanda (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Universitat Autònoma de Barcelona

Date:	2021
Abstract:	Mitochondrial DNA depletion and multiple deletions syndromes (MDDS) constitute a group of mitochondrial diseases defined by dysfunctional mitochondrial DNA (mtDNA) replication and maintenance. As is the case for many other mitochondrial diseases, the options for the treatment of these disorders are rather limited today. Some aggressive treatments such as liver transplantation or allogeneic stem cell transplantation are among the few available options for patients with some forms of MDDS. However, in recent years, significant advances in our knowledge of the biochemical pathomechanisms accounting for dysfunctional mtDNA replication have been achieved, which has opened new prospects for the treatment of these often fatal diseases. Current strategies under investigation to treat MDDS range from small molecule substrate enhancement approaches to more complex treatments, such as lentiviral or adenoassociated vector-mediated gene therapy. Some of these experimental therapies have already reached the clinical phase with very promising results, however, they are hampered by the fact that these are all rare disorders and so the patient recruitment potential for clinical trials is very limited.
Grants:	Instituto de Salud Carlos III PMP15/000 Instituto de Salud Carlos III PI18/0157 Agència de Gestió d'Ajuts Universitaris i de Recerca 2018FI_B_011
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Mitochondria ; Mtdn ; Replication ; Depletion ; Multiple deletions ; Therapy ; Nucleoside ; Gene therapy
Published in:	International journal of molecular sciences, Vol. 22 (june 2021) , ISSN 1422-0067

DOI: 10.3390/ijms22126447
PMID: 34208592

35 p, 972.9 KB

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