Mitochondrial Donation (PNT & MST)

Mitochondrial DNA (mtDNA): Mitochondria are organelles within cells responsible for producing energy, and they contain their own DNA, known as mitochondrial DNA (mtDNA). Mutations in mtDNA can lead to mitochondrial diseases, which can impact various organs and systems throughout the body.

Mitochondrial Diseases: Mitochondrial diseases are genetic disorders caused by mutations in either mtDNA or nuclear DNA. These mutations can impair energy production, resulting in symptoms such as muscle weakness, organ dysfunction, and developmental delays.

There are two main techniques used for mitochondrial donation:

1. Pronuclear Transfer (PNT): In PNT, the nucleus is extracted from a fertilized egg containing unhealthy mitochondria and transferred into a donor egg that has healthy mitochondria. The donor egg’s nucleus is removed prior to this process. This results in a hybrid egg with genetic material from both the mother and the donor, but with healthy mitochondria. The resulting embryo, which blends the parental genetics with optimal energy-producing mitochondria, is then implanted into the mother’s uterus with the goal of establishing a healthy pregnancy.
2. Maternal Spindle Transfer (MST): MST involves removing the nucleus from the mother’s egg and placing it into a healthy donor egg, from which the nucleus has been removed. Similar to PNT, MST involves transferring the spindle— a structure that helps separate chromosomes during cell division—from the mother’s egg to the donor egg, which has had its own spindle removed. The resulting egg contains the mother’s genetic material and healthy mitochondria from the donor.

Once the eggs are collected, our expert embryologists carefully evaluate and determine which technique is most appropriate for each case. Prior to beginning any fertilization procedures, the embryologist will discuss the chosen technique with the patients in detail and address any questions they may have.

Both techniques aim to prevent the transmission of mitochondrial diseases from the mother to her children by replacing the defective mitochondria in the mother’s egg with healthy mitochondria from a donor. While similar in their goal, these techniques differ in the timing and the type of cell used for the transfer.

Mitochondrial donation is a highly specialized medical procedure that requires advanced equipment and expertise. It is not available in all countries, but it offers hope to families affected by mitochondrial diseases, enabling them to have healthy children without passing on these conditions to future generations.