Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease

We found that mitochondrial donation through pronuclear transfer was compatible with human embryo viability. An integrated program involving pronuclear transfer and PGT was effective in reducing the transmission of homoplasmic and heteroplasmic pathogenic mtDNA variants. (Funded by NHS England and others.).

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Publication Details

Journal
New England Journal of Medicine
Published
2025-07-16
DOI
https://doi.org/10.1056/nejmoa2415539
Citations
27
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
21.76

Funders

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article

Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease

Meenakshi Choudhary, Jane E. Dutton, B. Rogers Matthew, Kathryn M. Wilson et al.
27 citations
New England Journal of Medicine
Mitochondrial Function and Pathology
21.76
article

Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease

Meenakshi Choudhary, Jane E. Dutton, B. Rogers Matthew, Kathryn M. Wilson, Louise Hyslop, Helen McDermott, Carol Shaw, Gavin Hudson, Catherine Feeney, Douglass M. Turnbull, Sarah Jane Smith, Robert McFarland, Yuko Takeda, Charlotte L. Alston, Mary Herbert, Eilis Moody, Magomet Aushev, Samantha Byerley, Emma L. Blakely, Lisa Lister, Jordan Lee Marley, Robert William Taylor, Jane A. Stewart, Matthew Prior, Kate Craig, Angela Pyle, Nilendran Prathalingam, Alison Murdoch, Rekha N. Pillai, Karina Endacott, Lynne Botham
article en
27 citations

Abstract

We found that mitochondrial donation through pronuclear transfer was compatible with human embryo viability. An integrated program involving pronuclear transfer and PGT was effective in reducing the transmission of homoplasmic and heteroplasmic pathogenic mtDNA variants. (Funded by NHS England 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), Monash University (AU), Newcastle University (GB)
Wellcome Trust, National Institute for Health and Care Research
Zero hunger
Openalex Percentile: Top 0%
Mitochondrial Function and Pathology
21.76
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