TY - JOUR
T1 - Therapeutic approaches to treat mitochondrial diseases
T2 - “One-size-fits-all” and “precision medicine” strategies
AU - Bottani, Emanuela
AU - Lamperti, Costanza
AU - Prigione, Alessandro
AU - Tiranti, Valeria
AU - Persico, Nicola
AU - Brunetti, Dario
N1 - Funding Information:
Funding: This study was supported by the Italian Ministry of Health (grants RF-2016-02361495, and “Ricerca Corrente”).
Funding Information:
Acknowledgments: D.B. acknowledge University of Milan, Grant number: BIOMETRA PSR2019-BRUNETTI; C. L.is members of the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD). This project was carried out in the Center for the Study of Mitochondrial Pediatric Diseases (http://www.mitopedia.org) funded by the Mariani Foundation
Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/11
Y1 - 2020/11
N2 - Primary mitochondrial diseases (PMD) refer to a group of severe, often inherited genetic conditions due to mutations in the mitochondrial genome or in the nuclear genes encoding for proteins involved in oxidative phosphorylation (OXPHOS). The mutations hamper the last step of aerobic metabolism, affecting the primary source of cellular ATP synthesis. Mitochondrial diseases are characterized by extremely heterogeneous symptoms, ranging from organ-specific to multisystemic dysfunction with different clinical courses. The limited information of the natural history, the limitations of currently available preclinical models, coupled with the large variability of phenotypical presentations of PMD patients, have strongly penalized the development of effective therapies. However, new therapeutic strategies have been emerging, often with promising preclinical and clinical results. Here we review the state of the art on experimental treatments for mitochondrial diseases, presenting “one-size-fits-all” approaches and precision medicine strategies. Finally, we propose novel perspective therapeutic plans, either based on preclinical studies or currently used for other genetic or metabolic diseases that could be transferred to PMD.
AB - Primary mitochondrial diseases (PMD) refer to a group of severe, often inherited genetic conditions due to mutations in the mitochondrial genome or in the nuclear genes encoding for proteins involved in oxidative phosphorylation (OXPHOS). The mutations hamper the last step of aerobic metabolism, affecting the primary source of cellular ATP synthesis. Mitochondrial diseases are characterized by extremely heterogeneous symptoms, ranging from organ-specific to multisystemic dysfunction with different clinical courses. The limited information of the natural history, the limitations of currently available preclinical models, coupled with the large variability of phenotypical presentations of PMD patients, have strongly penalized the development of effective therapies. However, new therapeutic strategies have been emerging, often with promising preclinical and clinical results. Here we review the state of the art on experimental treatments for mitochondrial diseases, presenting “one-size-fits-all” approaches and precision medicine strategies. Finally, we propose novel perspective therapeutic plans, either based on preclinical studies or currently used for other genetic or metabolic diseases that could be transferred to PMD.
KW - Gene therapy
KW - Mitochondria
KW - Mitochondrial disorders
KW - Mitochondrial DNA
KW - Pharmacological therapy
KW - Precision medicine
UR - http://www.scopus.com/inward/record.url?scp=85096017834&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85096017834&partnerID=8YFLogxK
U2 - 10.3390/pharmaceutics12111083
DO - 10.3390/pharmaceutics12111083
M3 - Article
AN - SCOPUS:85096017834
VL - 12
JO - Pharmaceutics
JF - Pharmaceutics
SN - 1999-4923
IS - 11
M1 - 1083
ER -