Mitochondrial DNA diseases
This research was completed on 31 October 2003
|Project Leader||Dr Joanna Poulton, BA, BM BCh, MRCP, DM, FRCPCH, Mr Stephen Kennedy, BA, MB BS, MRCOG, MD, MA and Dr D R Marchington, BSc, PHD.|
|Location||Department of Paediatrics in conjunction with the Nuffield Department of Obstetrics and Gynaecology, University of Oxford.|
|Grant awarded||22 October 1999|
|Start date||1 November 1999|
|End date||31 October 2003|
We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP. Please see our useful links page for some links to health information, organisations we are working with and other useful organisations. We hope you will find these useful. We are not responsible for the content of any of these sites.
A human cell is made up of many components, including mitochondria which provide the main source of energy for the cell. Mitochondria contain their own genetic material (DNA) mutations in which can give rise to variable effects ranging from neurodegenerative disease to diabetes. Some women are known to be carriers of defective mitochondrial DNA, which means that they may pass devastating conditions on to any children they have. These researchers have developed a new application of a technique which is routine in their in vitro fertilisation (IVF) unit. By testing a woman's egg cells, they can estimate how likely it is that any children she might have would be severely affected, so that she can be properly advised before becoming pregnant.