Next Article in Journal
Cyclodextrin Nanosponges Inclusion Compounds Associated with Gold Nanoparticles for Potential Application in the Photothermal Release of Melphalan and Cytoxan
Next Article in Special Issue
Mitochondrial Heteroplasmy Shifting as a Potential Biomarker of Cancer Progression
Previous Article in Journal
Proteomic Analysis of Synovial Fibroblasts and Articular Chondrocytes Co-Cultures Reveals Valuable VIP-Modulated Inflammatory and Degradative Proteins in Osteoarthritis
Previous Article in Special Issue
Anti-Warburg Effect of Melatonin: A Proposed Mechanism to Explain its Inhibition of Multiple Diseases

Therapy Prospects for Mitochondrial DNA Maintenance Disorders

Research Group on Neuromuscular and Mitochondrial Diseases, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain
Author to whom correspondence should be addressed.
Academic Editor: María Eugenia Soriano
Int. J. Mol. Sci. 2021, 22(12), 6447;
Received: 22 May 2021 / Revised: 10 June 2021 / Accepted: 11 June 2021 / Published: 16 June 2021
(This article belongs to the Special Issue Molecular Research on Mitochondrial Dysfunction)
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. View Full-Text
Keywords: mitochondria; mtDNA; replication; depletion; multiple deletions; therapy; nucleoside; gene therapy mitochondria; mtDNA; replication; depletion; multiple deletions; therapy; nucleoside; gene therapy
Show Figures

Figure 1

MDPI and ACS Style

Ramón, J.; Vila-Julià, F.; Molina-Granada, D.; Molina-Berenguer, M.; Melià, M.J.; García-Arumí, E.; Torres-Torronteras, J.; Cámara, Y.; Martí, R. Therapy Prospects for Mitochondrial DNA Maintenance Disorders. Int. J. Mol. Sci. 2021, 22, 6447.

AMA Style

Ramón J, Vila-Julià F, Molina-Granada D, Molina-Berenguer M, Melià MJ, García-Arumí E, Torres-Torronteras J, Cámara Y, Martí R. Therapy Prospects for Mitochondrial DNA Maintenance Disorders. International Journal of Molecular Sciences. 2021; 22(12):6447.

Chicago/Turabian Style

Ramón, Javier, Ferran Vila-Julià, David Molina-Granada, Miguel Molina-Berenguer, Maria J. Melià, Elena García-Arumí, Javier Torres-Torronteras, Yolanda Cámara, and Ramon Martí. 2021. "Therapy Prospects for Mitochondrial DNA Maintenance Disorders" International Journal of Molecular Sciences 22, no. 12: 6447.

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

Back to TopTop