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.).
Authors
- Meenakshi Choudhary (ORCID: https://orcid.org/0000-0003-0483-3627)
- Jane E. Dutton
- B. Rogers Matthew
- Kathryn M. Wilson (ORCID: https://orcid.org/0000-0003-3106-3971)
- Louise Hyslop (ORCID: https://orcid.org/0000-0002-0326-7208)
- Helen McDermott (ORCID: https://orcid.org/0000-0001-7814-4520)
- Carol Shaw
- Gavin Hudson (ORCID: https://orcid.org/0000-0001-7210-2733)
- Catherine Feeney (ORCID: https://orcid.org/0000-0003-3189-3991)
- Douglass M. Turnbull (ORCID: https://orcid.org/0000-0002-8878-9901)
- Sarah Jane Smith (ORCID: https://orcid.org/0000-0002-1561-9485)
- Robert McFarland (ORCID: https://orcid.org/0000-0002-8833-2688)
- Yuko Takeda (ORCID: https://orcid.org/0000-0002-8401-624X)
- Charlotte L. Alston (ORCID: https://orcid.org/0000-0003-2095-5464)
- Mary Herbert (ORCID: https://orcid.org/0000-0002-8488-2770)
- Eilis Moody
- Magomet Aushev (ORCID: https://orcid.org/0000-0002-1348-6404)
- Samantha Byerley
- Emma L. Blakely
- Lisa Lister
- Jordan Lee Marley (ORCID: https://orcid.org/0000-0001-8802-3458)
- Robert William Taylor (ORCID: https://orcid.org/0000-0002-7768-8873)
- Jane A. Stewart (ORCID: https://orcid.org/0000-0003-4301-8481)
- Matthew Prior
- Kate Craig
- Angela Pyle
- Nilendran Prathalingam
- Alison Murdoch
- Rekha N. Pillai
- Karina Endacott
- Lynne Botham
Institutions
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Centre for Life (GB)
- Wellcome Centre for Mitochondrial Research (GB)
- Monash University (AU)
- Newcastle University (GB)
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
- Wellcome Trust
- National Institute for Health and Care Research