Inherited Defects Minimized with Three Person IVF

By Kai Colvin - Senior Medical Research Editor | August 2nd, 2012

How can doctors interchange genetic material in women’s eggs in order to exclude rare mitochondrial diseases?

Scientists in the UK have found new poise in creating a way to substitute the defective mitochondria and confidently prevent the child from developing a disease.

Mitochondria can be found within almost every human cell, and provides the power boosting energy it needs to function. They have their own DNA, ribosomes and can make their own proteins.

Approximately 1 in 6,500 babies are born with pointedly severe or even fatally inherited defects in their mitochondrial DNA. Defects include muscular weakness, blindness and heart failure.

Around 1 in 200 children is born each year with mutations in the mitochondrial DNA.

Groundbreaking Technique

Three Person IVF takes the core genetic material from the intended mother and father as normal, but uses egg donation which contains healthy mitochondria. It ultimately means the child would have 0.1% of its genetic information coming from the donor.

The groundbreaking technique involves two eggs, one from the mother and another from a donor. The nucleus of the donor egg is detached, leaving the remaining contents, which consists of the mitochondria. The nucleus is replaced with the nucleus from the mother's egg.

The resultant embryo now has properly functioning mitochondria and no additional impact on the DNA, thus resulting in a healthy baby.

"What we've done is like changing the battery on a laptop," indicated lead author Professor Doug Turnbull. "The energy supply now works properly, but none of the information on the hard drive has been changed.

The Law

David Willetts, minister for Universities and Science designated, "Scientists have made an important and potentially life-saving discovery in the prevention of mitochondrial disease. However, as with all developments in cutting-edge science, it is vital that we to listen to the public's views before we consider any change in the law allowing it to be used.”

The scientific research shows this technique to be adequately safe and positively effective, however at this time clinics offering IVF (In-Vitro Fertilization) are not permitted to carry out the procedure.

Professor Doug Turnbull, from Newcastle University stated, "Every year we see hundreds of patients whose lives are seriously affected by mitochondrial disease. We want to make a major difference to the lives of these patients."

The Wellcome Trust (UK) recently sponsored Newcastle University to continue to research the technique.

The director, Sir Mark Walport, stated, "I am delighted to see that its report has found use of the techniques ethical. We urge the government to outline a timetable for considering amendments to legislation to permit use of the techniques in the clinic if, as we hope, the Human Fertility and Embryology Authority's consultation in autumn shows public support for this important technology."

To learn more about IVF treatments, find an IVF specialist in your area.