First egg DNA transfer brings potential to stop disease

15 April 2010

Scientists at Newcastle University have developed a pioneering technique that has the potential to help to prevent the transmission of serious inherited disorders known as mitochondrial diseases.

Mitochondria are often referred to as the cell's 'batteries' and are passed on from mother to child. One in 6500 children is born with mitochondrial mutations causing severe diseases, including muscular weakness, blindness, fatal heart failure, liver failure, learning disability and diabetes. There are no treatments currently available. The new technique takes the genetic material from a fertilised egg that carries faulty mitochondria and transplants it into an egg with healthy mitochondria.

"A child born using this method would have correctly functioning mitochondria, but in every other respect would get all their genetic information from their father and mother," said Professor Doug Turnbull, one of the lead researchers. "What we've done is like changing the battery on a laptop. The energy supply now works properly, but none of the information on the hard drive has been changed."

Watch a video of Professor Doug Turnbull and Professor Alison Murdoch explaining the breakthrough.

Reference

Craven L et al. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature 2010 [Epub ahead of print].