G Model
ARTICLE IN PRESS
BC-4584; No. of Pages 1
The International Journal of Biochemistry & Cell Biology xxx (2015) xxx–xxx
Contents lists available at ScienceDirect
The International Journal of Biochemistry & Cell Biology journal homepage: www.elsevier.com/locate/biocel
Editorial
Mitochondrial diseases: From the lab bench to therapies
It has been estimated that one in every 5000 persons develops mitochondrial diseases at some stage of their lives (Pfeffer et al., 2012). These disorders are often caused by mutations in the mitochondrial and/or nuclear genomes that affect structure and function of not only the respiratory complex but also various proteins that are imported into mitochondria to regulate mitochondrial metabolism. Beside their role in generating energy, mitochondria play a critical role in integration of cellular signalling and cellular homeostasis, dynamically responding to changes in the levels of oxygen, ATP, NADH, calcium, reactive oxygen species, reactive nitrogen species, and components of the apoptotic pathway. It is therefore not surprising that even the finest imbalance of mitochondrial metabolic status can lead to serious pathophysiological consequences. Of all the defects associated with mitochondrial metabolism, impairment of mitochondrial oxidative phosphorylation is the most common. Other less prevalent defects affect mitochondrial DNA maintenance and expression; accumulation of mutations in mitochondrial DNA; mitochondrial protein import and assembly; mitochondrial quality control (chaperones and proteases); iron-sulphur cluster homeostasis; mitochondrial dynamics (fission and fusion) and defects in mitochondrial phospholipid metabolism (Lu and Claypool, 2015). Molecular impairment of mitochondrial homeostasis projects itself in a wide spectrum of diseases, such as skeletal myopathy, cardiomyopathy, neurodegenerative diseases, muscular disorders, liver and kidney diseases, diabetes and cancer. As mitochondrial diseases often represent phenotypically heterogeneous disorders that can affect any organ at any time, the development of various in vivo models of mitochondrial diseases should facilitate specific therapeutics. We are grateful to our Guest Editor, Dr. Rodrigue Rossignol (University of Bordeaux, France) who compiled this excellent collection of reviews on various aspects of mitochondrial diseases. He and
his contributors have provided us with a state-of-the-art reference for current strategies for development of effective therapeutics directed at mitochondrial disorders. References Lu Y-W, Claypool SM. Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes. Front Genet 2015;6:3, http://dx.doi.org/10.3389/fgene.2015.00003. Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2012;4:CD004426.
Joanna Kargul ∗ Centre of New Technologies, University of Warsaw, Banacha 2C, 02-097 Warsaw, Poland Irmgard Irminger-Finger ∗ Laboratory of Molecular Gynecology & Obstetrics, Geneva University Hospitals, 2Ch. Petit Bel-Air 2, CH-1225 Geneva, Switzerland Geoffrey J. Laurent ∗ Centre for Cell Therapy and Regenerative Medicine and Lung Institute of Western Australia, University of Western Australia, Perth, Australia ∗ Corresponding
author.
∗ Corresponding
author.
∗ Corresponding author. E-mail address: [email protected] (J. Kargul)
Available online xxx
http://dx.doi.org/10.1016/j.biocel.2015.03.012 1357-2725/© 2015 Elsevier Ltd. All rights reserved.
Please cite this article in press as: Kargul J, et al. Mitochondrial diseases: From the lab bench to therapies. Int J Biochem Cell Biol (2015), http://dx.doi.org/10.1016/j.biocel.2015.03.012
ARTICLE IN PRESS
BC-4584; No. of Pages 1
The International Journal of Biochemistry & Cell Biology xxx (2015) xxx–xxx
Contents lists available at ScienceDirect
The International Journal of Biochemistry & Cell Biology journal homepage: www.elsevier.com/locate/biocel
Editorial
Mitochondrial diseases: From the lab bench to therapies
It has been estimated that one in every 5000 persons develops mitochondrial diseases at some stage of their lives (Pfeffer et al., 2012). These disorders are often caused by mutations in the mitochondrial and/or nuclear genomes that affect structure and function of not only the respiratory complex but also various proteins that are imported into mitochondria to regulate mitochondrial metabolism. Beside their role in generating energy, mitochondria play a critical role in integration of cellular signalling and cellular homeostasis, dynamically responding to changes in the levels of oxygen, ATP, NADH, calcium, reactive oxygen species, reactive nitrogen species, and components of the apoptotic pathway. It is therefore not surprising that even the finest imbalance of mitochondrial metabolic status can lead to serious pathophysiological consequences. Of all the defects associated with mitochondrial metabolism, impairment of mitochondrial oxidative phosphorylation is the most common. Other less prevalent defects affect mitochondrial DNA maintenance and expression; accumulation of mutations in mitochondrial DNA; mitochondrial protein import and assembly; mitochondrial quality control (chaperones and proteases); iron-sulphur cluster homeostasis; mitochondrial dynamics (fission and fusion) and defects in mitochondrial phospholipid metabolism (Lu and Claypool, 2015). Molecular impairment of mitochondrial homeostasis projects itself in a wide spectrum of diseases, such as skeletal myopathy, cardiomyopathy, neurodegenerative diseases, muscular disorders, liver and kidney diseases, diabetes and cancer. As mitochondrial diseases often represent phenotypically heterogeneous disorders that can affect any organ at any time, the development of various in vivo models of mitochondrial diseases should facilitate specific therapeutics. We are grateful to our Guest Editor, Dr. Rodrigue Rossignol (University of Bordeaux, France) who compiled this excellent collection of reviews on various aspects of mitochondrial diseases. He and
his contributors have provided us with a state-of-the-art reference for current strategies for development of effective therapeutics directed at mitochondrial disorders. References Lu Y-W, Claypool SM. Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes. Front Genet 2015;6:3, http://dx.doi.org/10.3389/fgene.2015.00003. Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2012;4:CD004426.
Joanna Kargul ∗ Centre of New Technologies, University of Warsaw, Banacha 2C, 02-097 Warsaw, Poland Irmgard Irminger-Finger ∗ Laboratory of Molecular Gynecology & Obstetrics, Geneva University Hospitals, 2Ch. Petit Bel-Air 2, CH-1225 Geneva, Switzerland Geoffrey J. Laurent ∗ Centre for Cell Therapy and Regenerative Medicine and Lung Institute of Western Australia, University of Western Australia, Perth, Australia ∗ Corresponding
author.
∗ Corresponding
author.
∗ Corresponding author. E-mail address: [email protected] (J. Kargul)
Available online xxx
http://dx.doi.org/10.1016/j.biocel.2015.03.012 1357-2725/© 2015 Elsevier Ltd. All rights reserved.
Please cite this article in press as: Kargul J, et al. Mitochondrial diseases: From the lab bench to therapies. Int J Biochem Cell Biol (2015), http://dx.doi.org/10.1016/j.biocel.2015.03.012
