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Mol Hum Reprod. 2015 Jan;21(1):11-22. doi: 10.1093/molehr/gau090. Epub 2014 Nov 24.

Mitochondrial DNA disease and developmental implications for reproductive strategies.

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Biotechnology in Animal Production, Department for Agrobiotechnology, IFA Tulln, 3430 Tulln, Austria Institute of Animal Breeding and Genetics, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210 Vienna, Austria
Department of Mathematics, Imperial College London, London SW7 2AZ, UK.
Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford OX3 9DU, UK.


Mitochondrial diseases are potentially severe, incurable diseases resulting from dysfunctional mitochondria. Several important mitochondrial diseases are caused by mutations in mitochondrial DNA (mtDNA), the genetic material contained within mitochondria, which is maternally inherited. Classical and modern therapeutic approaches exist to address the inheritance of mtDNA disease, but are potentially complicated by the fact that cellular mtDNA populations evolve according to poorly-understood dynamics during development and organismal lifetimes. We review these therapeutic approaches and models of mtDNA dynamics during development, and discuss the implications of recent results from these models for modern mtDNA therapies. We particularly highlight mtDNA segregation-differences in proliferative rates between different mtDNA haplotypes-as a potential and underexplored issue in such therapies. However, straightforward strategies exist to combat this and other potential therapeutic problems. In particular, we describe haplotype matching as an approach with the power to potentially ameliorate any expected issues from mtDNA incompatibility.


development; haplotype matching; mitochondrial DNA; mtDNA segregation; preventing mtDNA disease

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