Techniques to prevent transmission of mitochondrial diseases to be assessed in new £5.8 million Wellcome Trust centre
19 January 2012
The techniques involve transferring nuclear DNA, which contains our genetic make-up, between two human eggs to replace defective mitochondria - the 'batteries' that power the cells in our bodies. When these batteries fail, patients can develop devastating mitochondrial diseases with symptoms often affecting those tissues most heavily dependent on energy, such as the heart, muscles and brain.
The announcement of the new Centre comes as the Department of Health and the Department of Business, Innovation and Skills ask the Human Fertilisation and Embryology Authority (HFEA) to carry out a consultation to inform the public about mitochondrial disease and seek its opinion about the use of techniques to avoid such diseases. The HFEA will report the outcomes of this public dialogue work to the Secretary of State for Health, who will then decide whether to draft regulations for consideration by Parliament to allow the techniques to proceed in patients.
The techniques have already been shown to work in the laboratory, but in a review of the scientific evidence, the HFEA last year requested further experiments to assess their safety before they can be safely and acceptably used in clinics for patients.
The techniques have been developed in human eggs by Professor Doug Turnbull and Professor Mary Herbert at Newcastle University. Professor Turnbull will be the Director of the Wellcome Trust Centre for Mitochondrial Research, where the follow-up work will take place.
The Wellcome Trust has awarded £4.4 million to Newcastle University to establish a world-leading centre dedicated to understanding the biology of mitochondria and their relation to health and disease. Newcastle University has contributed a further £1.4 million for the centre.
Professor Turnbull says: "Every year, we see hundreds of patients whose lives are seriously affected by mitochondrial diseases. We want to make a major difference to the lives of these patients. This new funding will enable us to take forward essential experiments, which we hope will demonstrate to the HFEA and to the public that these techniques, which are based on existing IVF techniques, are safe and effective."
The Centre will bring together ground-breaking laboratory studies to understand the fundamental mechanisms and genetics of mitochondrial dysfunction, and the expertise of clinical researchers who currently care for over 400 patients with mitochondrial diseases at NHS Specialised services clinics in Newcastle and more than 1000 patients at the Newcastle Fertility Centre at Life (Newcastle upon Tyne Hospitals NHS Foundation Trust).
The university is already an internationally renowned institution for mitochondrial research, and the Fertility Centre has an international reputation in reproductive biology. This new award is expected to cement their places as world leaders.
Sir Mark Walport, Director of the Wellcome Trust, says: "Professor Turnbull and his colleagues at Newcastle are world leaders in discovering how inherited abnormalities in mitochondria, the 'batteries' of our cells, can cause devastating diseases that typically affect the brain and muscles. We hope that their work at this new Wellcome Trust Centre for Mitochondrial Research will result in major advances in our understanding of mitochondrial function and in the development of new treatments.
"Their work to stop the inheritance of defective mitochondria by transfer of DNA between human eggs is particularly promising and has the potential to prevent previously incurable diseases. We welcome the opportunity to discuss with the public why we believe this technique is essential if we are to give families affected by these diseases the chance to have healthy children, something most of us take for granted."
Professors Turnbull and Herbert, together with colleagues at the Newcastle Fertility Centre at Life, are working on two techniques that could prevent the transmission of mitochondrial diseases from mother to child. The first, known as 'pronuclear transfer' involves taking two fertilised eggs, one from the affected woman, the second from a donor.
The researchers remove the nuclear DNA - the part of a cell which contains our genetic make-up - from the donor egg, leaving behind the healthy mitochondria, and replace it with the nucleus from the mother's egg. This new egg is then implanted in the affected woman's womb using IVF. The second technique, known as 'metaphase spindle transfer', involves using non-fertilised eggs at the outset.
Currently, the donor eggs are provided by women undergoing IVF, who donate half their eggs in return for a subsidised private treatment or, in the case of NHS patients, an additional cycle of treatment. Now, new permissions have been granted to reimburse altruistic egg donors for inconvenience and lost earnings.
Professor Alison Murdoch, Professor of Reproductive Medicine at Newcastle University and Head of Newcastle Fertility Centre at Life, says: "Many women have expressed an interest in helping because they have family or friends who have been affected by a mitochondrial disorder or because they are interested in helping the research. Until now, we have not been able to recruit non-patient donors but that has now changed.
"After receiving counselling, these women are able to donate eggs altruistically - and these donations will be vital in providing a source of eggs for the researchers to be able to take forward their work towards eliminating these currently incurable diseases."
Every cell in our body needs energy to function. This energy is provided by mitochondria, which are found in every cell apart from red blood cells. The information required to create these 'batteries' - the mitochondrial DNA - is passed down the maternal line, from mother to child. As well as causing mitochondrial diseases, mitochondrial failure has also been described in common diseases such as Parkinson's disease, suggesting that the impact of energy failure might be greater than expected and an important cause of ageing and degenerative disease.
Researchers at the Wellcome Trust Centre for Mitochondrial Research at Newcastle University (Professors Doug Turnbull, Robert Lightowlers, Patrick Chinnery, Robert Taylor, Mary Herbert and Zofia Chrzanowska-Lightowlers) aim to understand, treat and ultimately prevent mitochondrial diseases. To achieve this, they will combine clinical expertise in mitochondrial disease with ground-breaking laboratory studies.
To ensure continued research in this area, the Centre will nurture the next generation of scientists by developing a new training programme in mitochondrial medicine for outstanding young researchers.
Professor Turnbull and colleagues recognise that their work to prevent mitochondrial disease passing from mother to child involves new and potentially controversial IVF techniques. Therefore, the Centre will also focus on engagement with patients, the general public and policymakers to explain their work.
Professor Turnbull adds: "With this new funding from the Wellcome Trust and Newcastle University, we aim to develop a Centre which integrates internationally renowned basic and clinical researchers and trains the next generation of outstanding scientists. We recognise the importance of public support for our work and so will ensure that we open our research for our patients, the public and policymakers to follow and see what we are trying to achieve."
In the video below, Professor Turnbull and Professor Murdoch discuss the technique used to transfer genetic material between two fertilised eggs.
Running time: 3 min 2 s
Watch this video on YouTube
Image: Three mitochondria (blue) surrounded by cytoplasm (gold). Credit: Dr David Furness, Wellcome Images.
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About the Wellcome Trust
The Wellcome Trust is a global charitable foundation dedicated to achieving extraordinary improvements in human and animal health. It supports the brightest minds in biomedical research and the medical humanities. The Trust's breadth of support includes public engagement, education and the application of research to improve health. It is independent of both political and commercial interests.
About Newcastle University
Newcastle University is a leading UK higher education institution with a reputation for international excellence built on the quality of teaching, research and work with the community and industry. The University is a member of the Russell Group of 20 leading UK universities that are committed to maintaining the very best research, an outstanding teaching and learning experience and unrivalled links with business and the public sector. The University is based in the city of Newcastle upon Tyne, in northeast England.