Institute of Neuroscience

Preventing mitochondrial DNA disease transmission

Preventing mitochondrial DNA disease transmission

There is currently no curative treatment for patients with mitochondrial DNA (mtDNA) disease. For many women carrying mtDNA mutations their overriding desire is to have a normal child. There is a variety of reproductive options available for women with mtDNA mutations including genetic counselling, ovum donation, antenatal diagnosis (by CVS biopsy) and pre-implantation genetic diagnosis (PGD).

For many families these techniques are not appropriate and we are developing pioneering IVF techniques to prevent transmission of mtDNA disease. We have recently shown, using abnormally fertilised zygotes, that this is a viable option in humans. This is a crucial first step and we now wish to determine the safety and efficacy of different techniques in normally fertilised human oocytes by exploring embryo development and assessing human ES cell lines.

Current research focuses on:

  • Development of techniques to prevent transmission of mitochondrial DNA disease
  • Regulation of cohesin and chromosome segregation during mammalian oogenesis

Newcastle University staff and students linked to the project:

 

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