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Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80.

Mitochondrial diseases.

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Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School Framlington Place, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Houston Merritt Clinical Research Center, Columbia University, New York, New York, USA.
Department of Neurology, College of Physicians and Surgeons, New York, New York, USA.
Department of Paediatrics and Child Health, Kurume University Graduate School of Medicine, Kurume University, Kurume, Japan.
Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Neuroscience Center, University of Helsinki, Helsinki, Finland.
Department of Neurology, Helsinki University Hospital, Helsinki, Finland.
Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Mitochondrial Biology Unit, Medical Research Council, Cambridge, UK.


Mitochondrial diseases are a group of genetic disorders that are characterized by defects in oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) that encode structural mitochondrial proteins or proteins involved in mitochondrial function. Mitochondrial diseases are the most common group of inherited metabolic disorders and are among the most common forms of inherited neurological disorders. One of the challenges of mitochondrial diseases is the marked clinical variation seen in patients, which can delay diagnosis. However, advances in next-generation sequencing techniques have substantially improved diagnosis, particularly in children. Establishing a genetic diagnosis allows patients with mitochondrial diseases to have reproductive options, but this is more challenging for women with pathogenetic mtDNA mutations that are strictly maternally inherited. Recent advances in in vitro fertilization techniques, including mitochondrial donation, will offer a better reproductive choice for these women in the future. The treatment of patients with mitochondrial diseases remains a challenge, but guidelines are available to manage the complications of disease. Moreover, an increasing number of therapeutic options are being considered, and with the development of large cohorts of patients and biomarkers, several clinical trials are in progress.

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