Genetic and reproductive strategies to prevent mitochondrial diseases
- Author
- Noemi Castelluccio (UGent) , Katharina Spath, Danyang Li, Irenaeus F M De Coo, Lyndsey Butterworth, Dagan Wells, Heidi Mertes (UGent) , Joanna Poulton and Björn Heindryckx (UGent)
- Organization
- Project
- Abstract
- Mitochondrial DNA (mtDNA) diseases pose unique challenges for genetic counselling and require tailored approaches to address recurrence risks and reproductive options. The intricate dynamics of mtDNA segregation and heteroplasmy shift significantly impact the chances of having affected children. In addition to natural pregnancy, oocyte donation, and adoption, IVF-based approaches can reduce the risk of disease transmission. Prenatal diagnosis (PND) and preimplantation genetic testing (PGT) remain the standard methods for women carrying pathogenic mtDNA mutations; nevertheless, they are not suitable for every patient. Germline nuclear transfer (NT) has emerged as a novel therapeutic strategy, while mitochondrial gene editing has increasingly become a promising research area in the field. However, challenges and safety concerns associated with all these techniques remain, highlighting the need for long-term follow-up studies, an improved understanding of disease mechanisms, and personalized approaches to diagnosis and treatment. Given the inherent risks of adverse maternal and child outcomes, careful consideration of the balance between potential benefits and drawbacks is also warranted. This review will provide critical insights, identify knowledge gaps, and underscore the importance of advancing mitochondrial disease research in reproductive health.
- Keywords
- mitochondrial DNA (mtDNA), mitochondrial disease, preimplantation genetic testing (PGT), prenatal diagnosis (PND), germline nuclear transfer (NT), mitochondrial gene editing, HEREDITARY OPTIC NEUROPATHY, NUCLEAR TRANSFER TECHNIQUES, GERMINAL VESICLE TRANSFER, IN-VITRO FERTILIZATION, CYTOCHROME-C-OXIDASE, STROKE-LIKE SYNDROME, DNA MUTATIONS, PRENATAL-DIAGNOSIS, EMBRYONIC-DEVELOPMENT, POLAR BODY
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Citation
Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-01JPHQWRVS7Q4SE1SMS7QW5F37
- MLA
- Castelluccio, Noemi, et al. “Genetic and Reproductive Strategies to Prevent Mitochondrial Diseases.” HUMAN REPRODUCTION UPDATE, vol. 31, no. 4, 2025, pp. 269–306, doi:10.1093/humupd/dmaf004.
- APA
- Castelluccio, N., Spath, K., Li, D., De Coo, I. F. M., Butterworth, L., Wells, D., … Heindryckx, B. (2025). Genetic and reproductive strategies to prevent mitochondrial diseases. HUMAN REPRODUCTION UPDATE, 31(4), 269–306. https://doi.org/10.1093/humupd/dmaf004
- Chicago author-date
- Castelluccio, Noemi, Katharina Spath, Danyang Li, Irenaeus F M De Coo, Lyndsey Butterworth, Dagan Wells, Heidi Mertes, Joanna Poulton, and Björn Heindryckx. 2025. “Genetic and Reproductive Strategies to Prevent Mitochondrial Diseases.” HUMAN REPRODUCTION UPDATE 31 (4): 269–306. https://doi.org/10.1093/humupd/dmaf004.
- Chicago author-date (all authors)
- Castelluccio, Noemi, Katharina Spath, Danyang Li, Irenaeus F M De Coo, Lyndsey Butterworth, Dagan Wells, Heidi Mertes, Joanna Poulton, and Björn Heindryckx. 2025. “Genetic and Reproductive Strategies to Prevent Mitochondrial Diseases.” HUMAN REPRODUCTION UPDATE 31 (4): 269–306. doi:10.1093/humupd/dmaf004.
- Vancouver
- 1.Castelluccio N, Spath K, Li D, De Coo IFM, Butterworth L, Wells D, et al. Genetic and reproductive strategies to prevent mitochondrial diseases. HUMAN REPRODUCTION UPDATE. 2025;31(4):269–306.
- IEEE
- [1]N. Castelluccio et al., “Genetic and reproductive strategies to prevent mitochondrial diseases,” HUMAN REPRODUCTION UPDATE, vol. 31, no. 4, pp. 269–306, 2025.
@article{01JPHQWRVS7Q4SE1SMS7QW5F37,
abstract = {{Mitochondrial DNA (mtDNA) diseases pose unique challenges for genetic counselling and require tailored approaches to address recurrence risks and reproductive options. The intricate dynamics of mtDNA segregation and heteroplasmy shift significantly impact the chances of having affected children. In addition to natural pregnancy, oocyte donation, and adoption, IVF-based approaches can reduce the risk of disease transmission. Prenatal diagnosis (PND) and preimplantation genetic testing (PGT) remain the standard methods for women carrying pathogenic mtDNA mutations; nevertheless, they are not suitable for every patient. Germline nuclear transfer (NT) has emerged as a novel therapeutic strategy, while mitochondrial gene editing has increasingly become a promising research area in the field. However, challenges and safety concerns associated with all these techniques remain, highlighting the need for long-term follow-up studies, an improved understanding of disease mechanisms, and personalized approaches to diagnosis and treatment. Given the inherent risks of adverse maternal and child outcomes, careful consideration of the balance between potential benefits and drawbacks is also warranted. This review will provide critical insights, identify knowledge gaps, and underscore the importance of advancing mitochondrial disease research in reproductive health.}},
author = {{Castelluccio, Noemi and Spath, Katharina and Li, Danyang and De Coo, Irenaeus F M and Butterworth, Lyndsey and Wells, Dagan and Mertes, Heidi and Poulton, Joanna and Heindryckx, Björn}},
issn = {{1355-4786}},
journal = {{HUMAN REPRODUCTION UPDATE}},
keywords = {{mitochondrial DNA (mtDNA),mitochondrial disease,preimplantation genetic testing (PGT),prenatal diagnosis (PND),germline nuclear transfer (NT),mitochondrial gene editing,HEREDITARY OPTIC NEUROPATHY,NUCLEAR TRANSFER TECHNIQUES,GERMINAL VESICLE TRANSFER,IN-VITRO FERTILIZATION,CYTOCHROME-C-OXIDASE,STROKE-LIKE SYNDROME,DNA MUTATIONS,PRENATAL-DIAGNOSIS,EMBRYONIC-DEVELOPMENT,POLAR BODY}},
language = {{eng}},
number = {{4}},
pages = {{269--306}},
title = {{Genetic and reproductive strategies to prevent mitochondrial diseases}},
url = {{http://doi.org/10.1093/humupd/dmaf004}},
volume = {{31}},
year = {{2025}},
}
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