Koopman 2016 EMBO Mol Med: Difference between revisions
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{{Publication | {{Publication | ||
|title=Koopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA (2016) Mitochondrial disorders in children: toward development of small-molecule treatment strategies. EMBO Mol Med 8:311-27. | |title=Koopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA (2016) Mitochondrial disorders in children: toward development of small-molecule treatment strategies. EMBO Mol Med 8:311-27. | ||
|info=[http://www.ncbi.nlm.nih.gov/pubmed/26951622 PMID: 26951622 Open Access] | |info=[http://www.ncbi.nlm.nih.gov/pubmed/26951622 PMID: 26951622 Open Access] | ||
|authors=Koopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA | |authors=Koopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA | ||
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© 2016 The Authors. Published under the terms of the CC BY 4.0 license. | © 2016 The Authors. Published under the terms of the CC BY 4.0 license. | ||
|keywords=Children, Clinical trial, Drug development, Mitochondria, Outcome measures | |keywords=Children, Clinical trial, Drug development, Mitochondria, Outcome measures | ||
|mipnetlab=NL Nijmegen Koopman WJ | |||
}} | }} | ||
{{Labeling | {{Labeling | ||
|injuries=Mitochondrial disease | |injuries=Mitochondrial disease | ||
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Revision as of 14:33, 27 March 2018
| Koopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA (2016) Mitochondrial disorders in children: toward development of small-molecule treatment strategies. EMBO Mol Med 8:311-27. |
Koopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA (2016) EMBO Mol Med
Abstract: This review presents our current understanding of the pathophysiology and potential treatment strategies with respect to mitochondrial disease in children. We focus on pathologies due to mutations in nuclear DNA-encoded structural and assembly factors of the mitochondrial oxidative phosphorylation (OXPHOS) system, with a particular emphasis on isolated mitochondrial complex I deficiency. Following a brief introduction into mitochondrial disease and OXPHOS function, an overview is provided of the diagnostic process in children with mitochondrial disorders. This includes the impact of whole-exome sequencing and relevance of cellular complementation studies. Next, we briefly present how OXPHOS mutations can affect cellular parameters, primarily based on studies in patient-derived fibroblasts, and how this information can be used for the rational design of small-molecule treatment strategies. Finally, we discuss clinical trial design and provide an overview of small molecules that are currently being developed for treatment of mitochondrial disease.
© 2016 The Authors. Published under the terms of the CC BY 4.0 license. • Keywords: Children, Clinical trial, Drug development, Mitochondria, Outcome measures
• O2k-Network Lab: NL Nijmegen Koopman WJ
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Stress:Mitochondrial disease
