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Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease

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

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© 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.

Publication metadata

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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