ArticleJournal of assisted reproduction and genetics2022
Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI.
Article in Journal of assisted reproduction and genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Mitochondrial replacement techniques for treating infertility.Journal of medical ethics · 2026Article
- Pronuclear Transfer and Maternal Spindle Transfer in the Mouse.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Generation of mitochondrial replacement monkeys by female pronucleus transfer.Zoological research · 2024Article
- Pronuclear transfer rescues poor embryo development ofHuman reproduction open · 2024Article
- High rate of detected variants in maleHuman reproduction open · 2024Article
- Good practice recommendations on add-ons in reproductive medicine†.Human reproduction (Oxford, England) · 2023Article
- Effects of adverse fertility-related factors on mitochondrial DNA in the oocyte: a comprehensive review.Reproductive biology and endocrinology : RB&E · 2023Review
- Assisted gamete treatment to pinpoint acquired meiotic maturity and overcome oocyte activation deficiency contributed by both gametes.F&S reports · 2023Article
- Enucleated oocyte donation: first for infertility treatment, then for mitochondrial diseases.Journal of assisted reproduction and genetics · 2022Article
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Authors and funding
15 authors at 1 institution in 1 country.
Funding
Abstract
purposeProviding additional insights on the efficacy of human nuclear transfer (NT). Here, and earlier, NT has been applied to minimize transmission risk of mitochondrial DNA (mtDNA) diseases. NT has also been proposed for treating infertility, but it is still unclear which infertility indications would benefit. In this work, we therefore additionally assess the applicability of NT to overcome failed fertilization.
methodsPatient 1 carries a homoplasmic mtDNA mutation (m.11778G > A). Seventeen metaphase II (MII) oocytes underwent pre-implantation genetic testing (PGT), while five MII oocytes were used for spindle transfer (ST), and one in vitro matured (IVM) metaphase I oocyte underwent early pronuclear transfer (ePNT). Patients 2-3 experienced multiple failed intracytoplasmic sperm injection (ICSI) and ICSI-assisted oocyte activation (AOA) cycles. For these patients, the obtained MII oocytes underwent an additional ICSI-AOA cycle, while the IVM oocytes were subjected to ST.
resultsFor patient 1, PGT-M confirmed mutation loads close to 100%. All ST-reconstructed oocytes fertilized and cleaved, of which one progressed to the blastocyst stage. The reconstructed ePNT-zygote reached the morula stage. These samples showed an average mtDNA carry-over rate of 2.9% ± 0.8%, confirming the feasibility of NT to reduce mtDNA transmission. For patient 2-3 displaying fertilization failure, ST resulted in, respectively, 4/5 and 6/6 fertilized oocytes, providing evidence, for the first time, that NT can enable successful fertilization in this patient population.
conclusionOur study showcases the repertoire of disorders for which NT can be beneficial, to overcome either mitochondrial disease transmission or failed fertilization after ICSI-AOA.
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