Mitochondrial replacement therapy (MRT) aims to prevent the transmission of heritable disorders caused by mutations in the mitochondrial genome. Mitochondria are cellular organelles that contain their own maternally inherited genome consisting of 37 genes, 13 of which code for essential proteins in the energy-producing machinery of the cell. Pathogenic mutations in this genome have been estimated to have a minimum prevalence of >1 in 5000 in adults.
1These mutations are associated with a broad spectrum of clinical phenotypes that range from fatal metabolic disorders in early infancy to late-onset neurodegenerative conditions. MRT thus is often the only possible intervention to enable the birth of a healthy, genetically related child for women who carry such mutations. MRT involves transferring the nucleus from an oocyte that contains pathogenic mitochondrial DNA to an enucleated donor oocyte that contains only normal mitochondrial genomes. The reconstituted oocyte then is fertilized in vitro, and the embryo is implanted. Alternative reproductive options may also include prenatal diagnosis, preimplantation genetic diagnosis, and egg donation, but most jurisdictions impose specific restrictions on their use,
- Ng Y.S.
- Turnbull D.M.
Mitochondrial disease: genetics and management.
J Neurol. 2016; 263: 179-191
2to say nothing of the issues related to equitable access.
- Palacios-González C.
- Medina-Arellano M.D.
Mitochondrial replacement techniques and Mexico's rule of law: on the legality of the first maternal spindle transfer case.
J Law Biosci. 2017; 4: 50-69
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- Mitochondrial disease: genetics and management.J Neurol. 2016; 263: 179-191
- Mitochondrial replacement techniques and Mexico's rule of law: on the legality of the first maternal spindle transfer case.J Law Biosci. 2017; 4: 50-69
- Mitochondrial replacement approaches: challenges for clinical implementation.Genome Med. 2016; 8: 126
- Human gene editing: revisiting Canadian policy.npj Regenerative Med. 2017; 2: 3
- Editing policy to fit the genome?.Science. 2016; 351: 337-339
- The “three-parent baby”: a case study of how language frames the ethical debate regarding an emerging technology.Am J Bioeth. 2015; 15: 57-60
Published online: July 18, 2017
Accepted: May 5, 2017
Received: May 4, 2017
Competing interests: None declared.
© 2017 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.