Mitochondrial DNA disease | Action Medical Research | Children's Charity | Children's Charity

Mitochondrial DNA diseases

This research was completed on 31 October 2003

Project LeaderDr Joanna Poulton, BA, BM BCh, MRCP, DM, FRCPCH, Mr Stephen Kennedy, BA, MB BS, MRCOG, MD, MA and Dr D R Marchington, BSc, PHD.
LocationDepartment of Paediatrics in conjunction with the Nuffield Department of Obstetrics and Gynaecology, University of Oxford.
Grant awarded22 October 1999
Start date1 November 1999
End date31 October 2003
Grant amount£53,308.00
Grant codeSP3499

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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.

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