The genome we obtain at fertilization determines much of our health as adults.
Mutations that cause human disease of increase risk of disease are common.
One type of mutation can occur in the mitochondrial DNA. These mutations are passed from mother to child with the egg. We and others have developed methods to remove these mutations from the egg. This method may allow women with these mutations to have children that are not affected by the disease.
We are conducting mitochondrial replacement in human eggs.
This method is designed to prevent disease causing mitochondria to be passed on to the child.
Mutant mitochondria are transmitted from mother to child for generations, and can cause severe disorders that can be lethal. The replacement of these mitochondria in the egg should result in a healthy child. The treatment is also called 'mitochondrial donation'.
The schematic on the right shows the transfer of the nuclear genome from one egg to the other. The red and blue dots are the mitochondria. The images below show the actual transfer. The removal of the genome is done using a special microscope that can visualize the spindle-chromosome complex (white arrow). PN=pronucleus, PB= polar body.
Using this method, the exchange of mitochondrial DNA can be complete.
In research published thus far, we conducted pre-clinical research. Mitochondrial replacement stem cells are being made to develop and optimize techniques for the replacement of mutant mitochondria.