Mitochondria are small structures within a cell with the unique function to provide the cell with energy. Each cell harbours more than a thousand mitochondria and each one has its own small genome carrying the information for 13 proteins. Mitochondrial myopathies are an important cause of muscle disease and in many cases they are caused by a defect in the mitochondrial genome. Since mitochondria are only inherited through the mother it is they who often pass the genetic defect to their children. The clinical features in patients with mitochondrial myopathies can vary from very mild, with paralysis of the eyes being the predominant symptom, to very severe with progressive weakness leading to respiratory failure. Currently no effective cure is available and genetic counselling and prenatal genetic diagnosis have serious limitations in providing essential advice to the families regarding inheritance issues. The purpose of Prof Turnbull’s research, therefore, is to explore the potential of a technique that could prevent the transmission of mitochondrial diseases.
Previous studies in mice have shown that it is possible to prevent the transmission of mitochondrial myopathy from mother to child. Prof Turnbull aims to investigate if such a method could be safely used in humans. This technique is carried out by transferring the nucleus (which carries the vast majority of genetic information) from a fertilised egg that contains affected mitochondria to one that contains healthy mitochondria resulting in a child who has healthy mitochondria. In order to make sure this technique is safe to use in humans, Prof Turnbull will be studying the development of the embryos for a short time after transfer of the nucleus to make sure that they develop normally. He and his team will also be investigating whether any of the affected mitochondria are moved over to the healthy egg with the nucleus during the transfer.
The results of this study will not only increase the knowledge about mitochondrial genetics but more importantly will help to translate this information into improved healthcare for patients with muscle diseases caused by mitochondrial DNA defects.
This project has been funded by GlaxoSmithKline.
Project leader: Prof. Doug Turnbull
Location: University of Newcastle upon Tyne
Duration of project: 3 years (starting January 2008)
Total project cost: £200,000
Official project title: Prevention of transmission of mitochondrial DNA disease
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