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New IVF technique could prevent transmission of mitochondrial disorders

19 April 2010
Appeared in BioNews 554

A team of researchers at Newcastle University in the UK has been successful in attempts to transfer genetic material from one newly fertilised human egg to another without carrying over the egg's mitochondria (the energy-producing structures of a cell). The technique could be used to prevent the transmission of abnormal mitochondria from a woman to her children, which has been linked to many known conditions including fatal liver failure, blindness, muscular dystrophy, type-II diabetes and deafness.

The research was published last week in the scientific journal Nature and was jointly funded by the Muscular Dystrophy Campaign, the Medical Research Council and the Wellcome Trust. Professor Douglass Turnbull, who headed the study, said that the new technique could provide a solution for women at high risk of bearing children severely affected by mitochondrial disease. He added that further work is required to ensure that the method is safe and that embryos manipulated in this way can be brought to term.

The study used 80 newly fertilised eggs left over from fertility treatments and donated for research. The nuclei from the father's sperm and mother's egg were removed, leaving behind most of the egg's mitochondria. Both nuclei were inserted into another fertilised egg that had already had its own nucleus removed. These newly formed embryos were then grown for 6-8 days to demonstrate that development could continue normally. Encouragingly, subsequent tests also showed that only minimal amounts of the mother's mitochondrial DNA was carried over.

Professor Turnbull told the Daily Telegraph newspaper that a child born using this method would get all their genetic information from their father and mother but would also receive correctly functioning mitochondria. He likened the new technique to changing the battery on a laptop whilst leaving the information on the hard drive unchanged. 'This is a very exciting development with immense potential to help families at risk from mitochondrial diseases,' he added.

The researchers are optimistic that the technique could be made available to women within the next three years. Currently around one in every 6,500 children is born with a serious mitochondrial disorder, causing chronic health problems and even death. The BBC reported that Sharon Bernadi from Sunderland, inherited a mitochondrial disease from her mother, which she also transmitted to her children. Six died shortly after birth and her only surviving son, Edward, has a severely debilitating mitochondrial disease and requires constant care. Although the new technique comes too late for Sharon it could help other similarly affected women give birth to healthy children.

The Human Fertilisation and Embryology Act 2008 made it illegal to use embryos that have been manipulated in the laboratory to create babies, so a further change in the law is required before this technique can be trialled in humans. Charities and others are now putting pressure on the Government to side-step this law by using secondary legislation brought by the Health Secretary. Sir Mark Walport, director of the Wellcome Trust, said that 'this is exciting research that could lead to the major clinical advance of preventing devastating mitochondrial diseases by curing the disease in fertilised eggs.'

Some agree that the procedure, once proved safe, should be allowed. Art Caplan, director of the Center for Bioethics at the University of Pennsylvania in the US, said: 'For these diseases that are very debilitating or devastating it makes sense.' Others warn that the creation of embryos with two mothers would be meddling with nature, although the research team stressed that the DNA from the donor mother comprised less than 0.2 per cent of total DNA in the new embryo. Josephine Quintavalle, from campaign group Comment on Reproductive Ethics, said that this was the worst kind of embryo experiment, adding: 'It is completely distorting the natural process. We have no clue what the long-term consequences will be.'

3 May 2011 - by MacKenna Roberts 
Further research is needed into the safety and effectiveness of techniques to prevent children being born with mitochondrial disease, a Human Fertilisation and Embryology Authority (HFEA) report has concluded...
14 March 2011 - by MacKenna Roberts 
Health Secretary, Andrew Lansley has asked the Human Fertilisation and Embryology Authority (HFEA) to convene an expert group 'to assess the effectiveness and safety' of a fertility treatment that would enable children to be born without potentially devastating, incurable mitochondrial diseases.
7 February 2011 - by Sujatha Jayakody 
The first UK baby to have been conceived following a new IVF screening technique was born in December. Baby Elliott's parents tried to conceive for a decade before doctors offered them a combined genetic and embryo screening technique...
26 July 2010 - by Dr Charlotte Maden 
A mathematical model for predicting a couple's chances of a successful pregnancy by IVF after one failed attempt has been developed by US researchers. The model is 1000 times more accurate at predicting a positive outcome than standard methods, which are mainly based on a woman's age. The model may help clinics give more personalised and reliable advice to couples...
24 May 2010 - by Rosemary Paxman 
IVF could become the routine method of conception for 30-40 year olds within a decade, scientists predict...
10 May 2010 - by Dr Marianne Kennedy 
Certain variations of mitochondrial DNA are protective against strokes, according to a recent study in The Lancet Neurology....
19 April 2010 - by Dr Kristina Mills and Dr Marita Pohlschmidt 
Research at Newcastle University funded by the Muscular Dystrophy Campaign has shown that it might be possible to prevent mitochondrial diseases being passed from mother to child...
19 April 2010 - by Dr Calum MacKellar 
The announcement that scientists at the University of Newcastle have developed a new procedure that could eventually help women with dysfunctional mitochondria (the energy source of the cell), made headline news across the world...
1 September 2009 - by Adam Fletcher 
A variation of somatic cell nuclear transfer (SCNT), reported online in the journal Nature, could be used in humans to allow women with a certain group of incurable inherited conditions - known as mitochondrial disorders - to have children without passing on the condition. Because the technique, developed by Dr Shoukhrat Mitalipov and team from the Orgeon National Primate Research Centre, US, involves the the sperm from one monkey and two eggs from different monkeys...
9 June 2008 - by MacKenna Roberts 
The UK Parliament's rejection of an amendment to new fertility legislation could delay the only potential new treatment for a class of roughly 50 devastating inherited metabolic disorders from becoming available for possibly years beyond when the technology is proven safe and effective for clinical use, according...
15 February 2008 - by BioNews 
In last week's BioNews we published an article about research into possible new treatments for mitochondrial disorders, in which we stated that: 'Sperm do not contribute any mitochondria to the embryo (as they are all present within the tail, which falls off after fertilisation) and, consequently, children inherit all their...
11 February 2008 - by Dr Rebecca Robey 
Scientists at the University of Newcastle are developing a technique that they hope will enable women with a group of devastating hereditary illnesses - known as mitochondrial diseases - to have children without passing on their genetic disorders. Because the method involves sperm from one man and two eggs...
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