Novel approaches to prevent transmission of mitochondrial diseases: filling in the safety gaps towards clinical application

01 October 2021 → 30 September 2025
Regional and community funding: Special Research Fund
Research disciplines
  • Medical and health sciences
    • Metabolic diseases
    • Reproductive medicine
    • Embryology
assisted reproduction mitochondrial disease Nuclear transfer
Project description


Nuclear transfer (NT) is a newly proposed procedure in assisted reproductive technology, involving the transfer of the nuclear genome from a patient’s diseased oocyte or zygote to a donor’s healthy, enucleated counterpart. This approach has been suggested for preventing the transmission of mitochondrial DNA (mtDNA) diseases, which can lead to incurable and life-threatening conditions.

The current first line treatment for these patients is preimplantation genetic testing (PGT), which allows the selection of embryos with low mutation loads. However, this technique still warrants further validation in terms of mtDNA mosaicism and simultaneous ploidy assessment. Moreover, PGT will not be suitable for a number of patients. We will further explore the safety and efficiency of the NT technology in human before clinical applications, with the main objectives being (i) assessment of embryonic developmental potential (ii) minimal mutated mtDNA carry-over and (iii) evaluation of the normality of the reconstructed NT embryos (-omics).