Cookies help us deliver our services. By using our services, you agree to our use of cookies. More information

Koopman 2016 EMBO Mol Med

From Bioblast
Publications in the MiPMap
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.

Β» PMID: 26951622 Open Access

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.

Β© 2016 The Authors. Published under the terms of the CC BY 4.0 license. β€’ Keywords: Children, Clinical trial, Drug development, Mitochondria, Outcome measures

β€’ O2k-Network Lab: NL Nijmegen Koopman WJ, NL Nijmegen Rodenburg R


Labels:

Stress:Mitochondrial disease