Mitochondrial donation is an assisted reproductive technology (ART). Mitochondrial donation may assist women with some forms of mitochondrial disease to have a healthy child by preventing the transfer of severe mitochondrial disease to their biological children.
Mitochondrial disease is a group of conditions caused by mutations in either mitochondrial DNA or nuclear DNA. Severe mitochondrial disease can have a devastating effect on families, including:
- the premature death of children
- painful, debilitating and disabling suffering
- long-term ill-health
- poor quality of life.
In Australia, between one in 5000 and one in 10,000 people develop severe mitochondrial disease during their lifetime. Around one child per week is born with a severe form of the disease.
How does mitochondrial donation work?
Mitochondrial donation may allow women with mitochondrial disease, caused by mutations or errors in their mitochondrial DNA, to have biological children without transmitting the disease to their children.
The term refers to several specific techniques aimed at ensuring only healthy mitochondria are passed on to an embryo.
Mitochondrial donation techniques allow reproductive technology specialists to create an embryo which contains the:
- nuclear DNA from a woman and a man (the prospective mother and father)
- mitochondria in an egg donated by another woman (the mitochondrial donor).
As egg cells contribute mitochondria to the next generation, this approach minimises the risk of a prospective mother transmitting mitochondrial disease to her child.
It cannot, however, cure people with existing mitochondrial disease or prevent mitochondrial disease caused by a mutation in nuclear DNA.
Different mitochondrial donation techniques involve transferring the nuclear DNA at different stages. One technique, maternal spindle transfer (MST), involves transferring the mother's nuclear DNA to an unfertilised donor egg where the nucleus has been removed and then fertilising the egg. Another technique, pronuclear transfer (PNT), involves the fertilisation of a mother's and a donor egg with the father's sperm and transfer of the parents' nuclear DNA from a fertilised egg to a fertilised donor egg that has the nucleus removed. There are also other mitochondrial techniques, which differ in the stage of development at which they are carried out and the origin of the nuclear DNA being transferred.
Public consultation on Mitochondrial Donation Supplementary Section to the ART Guidelines
The Australian Health Ethics Committee (AHEC) is conducting a limited review of the Ethical guidelines on the use of assisted reproductive technology in clinical practice and research (ART Guidelines) in response to the introduction of legislation to permit mitochondrial donation in Australia.
More information on the Mitochondrial Donation Supplementary Section and the process for making a submission is available on ART Guidelines.
Introduction of the Mitochondrial Donation Licensing Scheme
Eligible Australian women with a diagnosis of mitochondrial disease may have access to mitochondrial donation under amendments to the Research Involving Human Embryos Act 2002 and the Prohibition of Human Cloning for Reproduction Act 2002 which took effect in October 2022. The amendments allow for the introduction of this ART technique in Australia under a new licensing scheme. NHMRC's Embryo Research Licensing Committee (ERLC) is the responsible authority for the new licensing framework.
Implementation of the Mitochondrial Donation Licensing Scheme
More information on the mitochondrial donation licensing scheme and ERLC's responsibilities in administering these licences, including information for licence applicants is found on mitochondrial donation licensing scheme.
The licences authorise pre-clinical research and training, clinical research and training and clinical trial activities to allow for the safe expansion and translation of scientific evidence. All 3 licences will permit the use of PNT and MST mitochondrial techniques. The pre-clinical research and training licence is designed specifically to expand scientific knowledge and allows for 3 additional techniques.
Learn more
NHMRC and the Australian Government Department of Health and Aged Care have previously conducted public and community consultation on the implementation of mitochondrial donation in Australia. If you would like to learn more about previous consultations visit mitochondrial donation consultation activities.
