Mitochondrial Disease and Mitochondrial Donation

Mitochondrial Disease (Mito)

• Mitochondrial disease is a group of conditions that affect the ability of cells to generate energy, leading to organ failure.
• There are two types of mitochondrial disease: one caused by faulty genes in nuclear DNA and the other caused by faulty genes in mitochondrial DNA.
• Mitochondrial disease is the most common inherited metabolic condition, affecting one in 5,000 people.
• Symptoms can be mild and progress slowly, or severe and progress rapidly.
• Organs that need a lot of energy, such as the brain, muscle, and heart, are more often affected.

Mitochondrial Donation

• Mitochondrial donation is an experimental IVF-based technique that allows people with faulty mitochondrial DNA to have genetically related children without passing on the faulty DNA.
• The technique involves removing the nuclear DNA from the egg of someone with faulty mitochondrial DNA and inserting it into a healthy egg donated by someone not affected by mito.
• The resulting egg has the nuclear DNA of the intending parents and functioning mitochondria from the donor.
• A child born after mitochondrial donation will have genetic material from three parties: nuclear DNA from the intending parents and mitochondrial DNA from the egg donor.

Maeve's Law

• Maeve's Law is a law passed in the Australian Senate in 2022, making mitochondrial donation legal in a research and clinical trial setting.
• The law stipulates strict conditions, including the need for clinics to have a special licence to perform mitochondrial donation.
• Initial licences will be issued for pre-clinical and clinical trial research and training to ensure mitochondrial donation is safe and effective.

Mitochondrial Donation in Australia

• Scientists are preparing for a clinical trial to test the safety and effectiveness of mitochondrial donation.
• The mitoHOPE (Healthy Outcomes Pilot and Evaluation) program will perfect the technique and conduct a clinical trial.
• A preclinical research and training program will ensure embryologists are trained in "real-life" clinical conditions and existing mitochondrial donation techniques are refined and improved.

Need for Donor Eggs

• Sourcing eggs is a challenge for mitochondrial donation.
• Frozen eggs can be used for preclinical research and training, but "fresh" eggs will be needed for the clinical trial.
• Research suggests that people with stored eggs may be willing to donate them to mitochondrial donation preclinical research.
• Volunteer egg donors will be needed for the clinical trial to provide people affected by mito with a chance to have a healthy baby.