The University of Newcastle’s Doug Turnbull is part of a team (with Professors Mary Herbert and Alison Murdoch) that is developing a technique to prevent inherited genetic conditions called mitochondrial diseases. ‘Mitochondrial transfer’ replaces a woman’s faulty mitochondria with those of a healthy donor, and combining the technique with IVF could mean affected women no longer pass on these diseases.
As the public consultation on whether to change the law to allow mitochondrial transfer draws to a close, Katherine Nightingale talks to Doug about the technique, why it’s needed and what it’s like to be working in a potentially legislation-changing field.
Will we have heard of any of these mitochondrial diseases?
The diseases affect the mitochondria — the ‘batteries’ of the cell that produce the energy cells need to function properly. You might not have heard of them; some, such as Leigh’s syndrome, have been known for many years among doctors and researchers but the collective term of mitochondrial diseases isn’t well known among the public, even though around 1 in 6,000 children is born with some kind of mitochondrial disease. The diseases most affect the parts of the body that use the most energy: the brain and nervous system, muscles and other major organs such as the heart and liver.
The intriguing thing about mitochondria is that they have their own DNA, separate to the DNA in a cell’s nucleus. The affected genes in mitochondrial diseases are in this mitochondrial DNA, meaning they are inherited differently to other genetic diseases — only mothers pass them on to their children through their eggs. Read more