Mitochondrial Disease (or Mito)

Scientists are preparing for a clinical trial to test the safety and effectiveness of mitochondrial donation.

Mitochondrial donation Significance

• This procedure offers a cure for Mito disease

About Mitochondrial Disease

• Mitochondrial disease (or Mito) affects the mitochondria’s ability to produce energy for organs, leading to potential organ failure.
• Types: There are two types of Mito:
  • Nuclear DNA Fault: Caused by faulty genes in nuclear DNA, inherited from either parent.
  • Mitochondrial DNA Fault: Caused by faulty genes in mitochondrial DNA, inherited only from the mother. The severity can vary widely.
• Commonly Affected Organs: Heart, brain, and muscles, as they require a lot of energy.
• Childhood Impact: Mito in children often affects multiple organs, progresses quickly, and can be fatal.
• Prevalence: Around 1 in 5000 people suffer from genetic mitochondrial disease. 
  • Number, type of symptoms and organ systems cause misdiagnosis, leading to underestimation of prevalence of this disease. 

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Mitochondrial Donation

• Mitochondrial donation is a new IVF technique that helps people with faulty mitochondrial DNA have children who are genetically related to them without passing on the defective DNA.

• Process

  • Remove the nuclear DNA from an egg with faulty mitochondrial DNA.
  • Insert the nuclear DNA into a donor egg with healthy mitochondrial DNA.
  • Fertilize the egg with sperm, combining the nuclear DNA of both parents with healthy mitochondria from the donor.

• Benefits: The child will have genetic material from three people—nuclear DNA from both parents and mitochondrial DNA from the donor.

  • It will reduce or eliminate the risk of mitochondrial disease.
  • Procedure of Mitochondrial Donation
    • Preparation: Both the egg donor and the person with mitochondrial disease receive hormone injections to stimulate the ovaries to produce multiple eggs.
    • Egg Retrieval: Eggs are retrieved using an ultrasound-guided surgical procedure.

• Challenges: One of the major hurdles in mitochondrial donation is finding suitable eggs. While frozen eggs might work for initial research and training, actual clinical trials require fresh eggs.

  • There are two main challenges in acquiring these eggs:
    • Limited availability: Not everyone opts to freeze their eggs, making readily available frozen eggs scarce.
    • Need for fresh eggs: For the most effective procedures, fresh eggs are irreplaceable.
  • Potential solutions to address this challenge:
    • Egg donation programs: Encouraging people who have already undergone egg retrieval and have unused eggs to donate them. 
    • Volunteer donors: Recruiting individuals willing to undergo egg donation specifically to help those with mitochondrial diseases is another option. 
      • This could involve both those who know someone participating in the trials and those who are simply driven to help others have healthy children.

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