Causes & Treatment

Mitochondrial donation treatment

International Fertility Group (IFG)  |   26 Oct 2023


Have you ever heard of the three-parent baby technique, also known as mitochondrial donation?

The International Fertility Group (IFG), a worldwide IVF agency with some of the best success rates in Europe, is right at the front of the pack when it comes to this groundbreaking technique – both in terms of education, and technological advancement. 

Read on as the IFG team unpacks mitochondrial donation, who the treatment is for, and some of its key advantages.

Mitochondrial donation

Mitochondrial donation, a cutting−edge medical procedure at the intersection of genetics and reproductive medicine, promises to transform lives and reshape our understanding of genetic inheritance. This innovative technique, also known as “three−parent IVF,” allows couples with a high risk of passing on debilitating mitochondrial diseases to have healthy children.

It represents a remarkable leap forward in assisted reproductive technology and offers renewed hope to families facing the potential difficulty of inherited mitochondrial DNA disorders

This article will discuss the fascinating mitochondrial replacement techniques, their scientific underpinnings, ethical considerations, and the potential for healthier offspring.

What are mitochondria?

Mitochondria, often known as the “powerhouses of the cell,” are cell organelles with a pivotal role in the complex mechanism of life. These tiny, double−membraned structures reside within the stem cells of our bodies and are tasked with an essential mission: energy production. Mitochondria achieve this by engaging in a cellular respiration process, where they convert nutrients from the food we consume into adenosine triphosphate (ATP) – the energy currency of our stem cells. This energy is then harnessed to fuel virtually every cellular function, from muscle contractions to neuron firing and everything in between.

They also play a crucial role in regulating cell growth, maintaining cellular health, and even orchestrating programmed cell death (apoptosis). Additionally, they have their DNA, separate from the cell’s nucleus, which has sparked intrigue and research into their evolutionary origins.

What is mitochondrial donation treatment?

Mitochondrial donation treatment is one of the unique IVF techniques that can prevent the transmission of severe mitochondrial genome diseases. These diseases, which affect the energy−producing mitochondria within our cells, can lead to debilitating and, at times, life−threatening conditions. This procedure’s ethical and regulatory aspects have been the subject of intense scrutiny and debate by Human Fertilisation and Embryology (HFEA), leading to careful consideration and stringent oversight in its application.

The core principle of mitochondrial replacement therapy involves the transfer of healthy mitochondria from a donor egg to an intended mother’s egg. This process occurs before or after fertilization, depending on the technique employed. Medical research indicates that the result is an embryo with the intended parents’ nuclear DNA but consisting of disease−free and functional mitochondria from the donor.  While still relatively new and not without its ethical complexities, mitochondrial donation techniques represent a significant stride in reproductive medicine.

What Is Mitochondrial Donation Treatment

What is mitochondrial disease?

Mitochondrial DNA disease is a complex group of disorders that arise from dysfunction within the mitochondria, the tiny energy−producing structures found in nearly every cell of our bodies. Mitochondria are essential for oxidative phosphorylation − a cellular process that harnesses the reduction of oxygen to generate high−energy phosphate bonds in the form of adenosine triphosphate (ATP), which fuels the various biochemical processes necessary for cellular function and life.

When mitochondrial function is impaired due to genetic mutations or other factors, it can lead to symptoms and health challenges. The severity and presentation of mitochondrial genome diseases can vary significantly from one individual to another. 

Some common symptoms and effects of mitochondrial disease may include: 

  • Fatigue
  • Muscle Weakness
  • Organ Dysfunction
  • Neurological Symptoms
  • Vision and Hearing Loss
  • Gastrointestinal Problems

Who is mitochondrial donation treatment for?

Transmission of mitochondrial DNA is primarily intended for individuals and families facing the complex and emotionally challenging issues of mitochondrial diseases. 

Specifically, mitochondrial donation treatment is designed for:

  1. Couples at Risk. Couples who have a family history of mitochondrial DNA disorders or who have previously had a child affected by these disorders may consider mitochondrial donation treatment as a way to prevent future generations from inheriting these conditions.
  2. Individuals with Mitochondrial Diseases. People who carry mitochondrial DNA mutations that put them at risk of passing on these genetic disorders to their future children are prime candidates for this treatment. It offers to conceive biological children without the fear of transmitting mitochondrial diseases.
  3. Those Seeking Family Planning Options. Transmission of mitochondrial DNA provides an alternative approach to family planning, especially when traditional reproductive methods are unsuitable due to the risk of transmission of mitochondrial disease.

Mitochondrial Donation Techniques

Mitochondrial donation techniques represent a groundbreaking frontier in assisted reproductive technology, offering innovative solutions for preventing the intergenerational transmission of mitochondrial diseases.

Maternal Spindle Transfer (MST)

This technique involves a meticulous process where the nucleus, containing the intended mother’s genetic material, is extracted from her egg. Simultaneously, a healthy donor egg with its core removed is prepared. The nuclear from the intended mother’s egg is subsequently introduced into the donor egg, resulting in an embryo development containing the intended parents’ DNA and the healthy mitochondria from the donor. MST has been successfully utilized to prevent the transmission of mitochondrial diseases and support the birth of a healthy child.

Pronuclear Transfer (PNT)

In PNT, the nucleus from the fertilized embryo of the intended parents is removed from the zygote. A zygote with a healthy core is also created from a donor egg. The nucleus from the intended parents’ zygote is then transferred into the donor zygote, effectively replacing the faulty mitochondria with healthy ones. PNT, like MST, holds promise for preventing mitochondrial genome disease inheritance.

Advantages of mitochondrial donation

  • Psychological Relief: Mitochondrial transfer offers emotional relief and peace of mind for individuals and couples at risk of passing on mitochondrial diseases. It eliminates the anxiety and emotional distress associated with the possibility of having children with severe genetic disorders.
  • Enhanced Family Planning: Mitochondrial Donation and preimplantation genetic diagnosis empower individuals to make informed choices about family planning. It empowers them with more options and control over their reproductive journey.
  • Improved Quality of Life: Life can be marked by chronic health challenges and limitations for people facing mitochondrial genome diseases. Mitochondrial donation offers the hope of a better quality of life for affected individuals and their families by sparing future generations from these conditions’ physical and emotional burdens.
  • Social and Community Support: The availability of mitochondrial donation can foster community among individuals and families facing similar challenges. Support networks and resources are available, providing valuable guidance and encouragement.

Issues with mitochondrial donation

While the potential benefits are significant, it’s essential to address the following issues associated with this innovative technique:

  • Ethical Dilemmas: The manipulation of human embryos, the introduction of genetic material from a third party (the mitochondrial donor), and the further embryo development with a genetic connection from multiple individuals raise ethical questions. Society must grapple with issues related to consent, identity, and the potential for unforeseen consequences.
  • Regulatory Oversight: Establishing clear and robust regulatory frameworks for mitochondrial replacement techniques is crucial. Striking a balance between promoting scientific progress and safeguarding against misuse or unethical applications is challenging but essential.
  • Access and Equity: Currently, medical research on mitochondrial donation is limited to regions with well−defined regulatory pathways, access to specialized facilities, and financial capacity to perform the procedure. Ensuring equitable access to this cutting−edge technology and addressing disparities in national health are important considerations.

Conclusions

As we navigate the complexities of this assisted reproductive technology, we must do so with a commitment to ethical integrity and a deep sense of responsibility. Mitochondrial donation represents a remarkable breakthrough with the potential to prevent mitochondrial DNA disease transmission and provide individuals and families with previously unimaginable reproductive choices. 

However, it is a field fraught with ethical dilemmas, regulatory challenges, and scientific unknowns that demand ongoing scrutiny and thoughtful reflection. Thus, choosing a reliable embryology authority and fertility clinic is crucial in mitochondrial replacement therapy. It impacts the procedure’s outcome and influences the overall patient experience. Researching and selecting a reputable clinic can provide confidence and peace of mind throughout the journey.

Interested in mitochondrial donation, and the three parent baby technique? Reach out to IFG for world-leading education, and to begin your journey to mitochondrial donation.

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