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.
1
These 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,
2
to say nothing of the issues related to equitable access.Key words
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References
- 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
Article info
Publication history
Published online: July 18, 2017
Accepted:
May 5,
2017
Received:
May 4,
2017
Footnotes
Competing interests: None declared.
Identification
Copyright
© 2017 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.
