Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease

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. (Funded by the U.K. National Health Service and others.).

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Publication Details

Journal
New England Journal of Medicine
Published
2025-07-16
DOI
https://doi.org/10.1056/nejmoa2503658
Citations
24
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
19.34

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article

Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease

Meenakshi Choudhary, Matthew J. Prior, Louise Hyslop, Catherine Feeney et al.
24 citations
New England Journal of Medicine
Mitochondrial Function and Pathology
19.34
article

Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease

Meenakshi Choudhary, Matthew J. Prior, Louise Hyslop, Catherine Feeney, Douglass M. Turnbull, Robert McFarland, Anita Devlin, Mary Herbert, Eilis Moody, Emma L. Blakely, Robert William Taylor, Jane A. Stewart, Rekha N. Pillai
article en
24 citations

Abstract

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. (Funded by the U.K. National Health Service and others.).

New England Journal of MedicineVol. 393(5)
Newcastle upon Tyne Hospitals NHS Foundation Trust (GB), Centre for Life (GB), Wellcome Centre for Mitochondrial Research (GB), Great North Children's Hospital (GB), Monash University (AU), Newcastle University (GB)
Wellcome Trust
Zero hunger
Openalex Percentile: Top 0%
Mitochondrial Function and Pathology
19.34
DOIOpen Access PDFOpenAlex
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