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Mitochondrial DNA replacement therapy successfully tested in human eggs

29 October 2012

By Joseph Jebelli

Appeared in BioNews 679

Scientists have successfully created human embryos containing donated mitochondrial DNA in an effort to stop children inheriting life-threatening diseases. The technique, known as spindle transfer, involves transferring the nucleus from the egg of a woman with potentially disease-causing mutations in her mitochondrial DNA, into a healthy donor egg which has had its nucleus removed.

'Using this process, we have shown that mutated DNA from the mitochondria can be replaced with healthy copies in human cells', said Dr Shoukhrat Mitalipov from Oregon Health and Science University in Portland, who led the research. 'This research shows that this gene therapy method may well be a viable alternative to preventing devastating diseases passed from mother to infant'.

Mutations in mitochondrial DNA, affecting approximately one in 200 babies, can lead to a range of problems including; muscle weakness, heart disease, learning disabilities and blindness. Spindle transfer was devised with the aim of allowing mothers to prevent the transmission of such mitochondrial disorders to their children and future generations, by replacing the mutant mitochondrial DNA with that from a healthy donor egg.

The researchers decided to test the technique on human cells after demonstrating that it can produce healthy offspring in monkeys. They showed that the process resulted in normal human embryos and moreover can be performed using frozen eggs. This is crucial if the method is to become a practical reality in the clinic. The next step - human clinical trials - is now under serious discussion. 'I would say that it's safe enough at this stage to proceed to clinical trials', said Dr Mitalipov.

The technique is not currently permitted for clinical use in the UK, as it falls within the status of germline gene therapy. This refers to any alterations to the DNA of sperm or eggs that are subsequently passed down to future generations.

The UK's Human Fertilisation and Embryology Authority (HFEA) are now overseeing a public consultation on whether this and other similar techniques, such as that carried out by UK researchers at Newcastle University (BioNews 554), should be made available to prevent the inheritance of mitochondrial diseases (Bionews 673).

Further research is needed into the viability of these techniques, as in the current study only half of the human eggs that underwent spindle transfer were successfully fertilised to produce embryos. Professor Peter Braude, a member of the HFEA expert committee, told the Independent that the research 'is exactly the sort of science that the HFEA committee recommended needed doing, and demonstrates further the feasibility of this technique. However it is still a long way off ready for human use'.

The study was published in the journal Nature.

 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

21 March 2013 - by Sandy Starr 
Mitochondrial replacement therapy, where a small amount of a mother's genetic material is swapped with material from a donor during IVF to avoid passing on heritable illnesses, enjoys the 'general support' of the public, the UK's fertility regulator says... [Read More]
03 December 2012 - by Maria Sheppard 
Mitochondrial replacement has been making the headlines this year, but understanding the science behind it is no small task. Cue a whiteboard, some marker pens and two informative narrators... [Read More]
03 December 2012 - by Dr Iain Brassington 
Under the law as it stands in the UK, only 'permitted' embryos may be implanted into a woman. Permitted embryos are those that have not been genetically modified, and are not formed from genetically modified gametes... [Read More]
19 November 2012 - by Professor Mary Herbert 
The energy required for our cells to function properly is mainly produced by mitochondria. Mitochondria are tiny structures within our cells, which contain their own DNA. The mitochondrial DNA (mtDNA) encodes a small number of the many proteins required to produce energy efficiently. Mutations in mtDNA cause a broad spectrum of diseases and degenerative disorders, which can be fatal.... [Read More]
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08 October 2012 - by Sophie Pryor 
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17 September 2012 - by Sarah Norcross 
Mitochondria don't normally get much press attention, they like to keep a low profile generating energy in the cells and leave nuclear DNA to grab the headlines... [Read More]
17 September 2012 - by Sophie Pryor 
The UK's Human Fertilisation and Embryology Authority (HFEA) has launched a public consultation on the social and ethical impact of new methods that could prevent the transmission of some incurable mitochondrial diseases.... [Read More]
25 June 2012 - by Dr Virginia Bolton 
Predictably, the publication of the Nuffield Council on Bioethics' report supporting further research into a technique to prevent inheritance of mitochondrial disease prompted a flurry of publicity. Equally predictably, nearly every newspaper - whether broadsheet or tabloid - went for the sensationalist angle and used the 'three-parent IVF' tag in their headline... [Read More]
12 June 2012 - by Antony Blackburn-Starza 
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