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Lookup NU author(s): Professor Bobby McFarlandORCiD, Dr Louise Hyslop, Catherine Feeney, Dr Matthew Prior, Dr Anita Devlin, Professor Robert TaylorORCiD, Professor Mary Herbert, Dr Meenakshi Choudhary, Dr Jane Stewart, Emeritus Professor Doug Turnbull
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2025 Massachusetts Medical Society. Pathogenic variants in mitochondrial DNA (mtDNA) are a common cause of severe, often fatal, inherited metabolic disease. A reproductive care pathway was implemented to provide women carrying pathogenic mtDNA variants with reproductive options. A total of 22 women with pathogenic mtDNA variants have commenced or completed pronuclear transfer (and thus receipt of a mitochondrial donation), and there have been 8 live births. All 8 children were healthy at birth, with no or low levels of mtDNA heteroplasmy in blood. Hyperlipidemia and cardiac arrhythmia developed in a child whose mother had hyperlipidemia during pregnancy; both of the child's conditions responded to treatment. Infant myoclonic epilepsy developed in another child, with spontaneous remission. At the time of this report, all the children have made normal developmental progress.
Author(s): McFarland R, Hyslop LA, Feeney C, Pillai RN, Blakely EL, Moody E, Prior M, Devlin A, Taylor RW, Herbert M, Choudhary M, Stewart JA, Turnbull DM
Publication type: Article
Publication status: Published
Journal: New England Journal of Medicine
Year: 2025
Volume: 393
Issue: 5
Pages: 461-468
Print publication date: 31/07/2025
Online publication date: 16/07/2025
Acceptance date: 02/04/2018
Date deposited: 16/10/2025
ISSN (print): 0028-4793
ISSN (electronic): 1533-4406
Publisher: Massachussetts Medical Society
URL: https://doi.org/10.1056/NEJMoa2503658
DOI: 10.1056/NEJMoa2503658
PubMed id: 40689593
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