'What an embryo with two mums means to me'

JULIA Lofthouse was falling asleep to the radio news when she heard the words that made her sit bolt upright. "Research into mitochondrial myopathy" was the phrase used in a news item broadcast by BBC Radio 4's World Tonight last Thursday.

Julia, an engineer who works at ICI Wilton, developing new chemical products, was astonished for good reason. While she appears totally normal, she suffers from mitochondrial myopathy, a rare condition which interferes with the way the muscles in her legs and arms work.

Mitochondria are very tiny structures which surround every cell of the human body, except red blood cells. Their function is to produce energy to power our muscles and other organs. If mitochondria are faulty, this can lead to major health problems.

Crucially, mitochondria have their own genetic material, or DNA, which humans inherit through their mothers. Scientists in Newcastle have been given permission to investigate ways of removing 'bad' mitochondria from fertilised human eggs to prevent babies inheriting potentially serious diseases.

Having this condition means Julia has to use a stick to get around and relies on powerful drugs to keep agonising pain in her leg and arm muscles at bay.

Julia, 35, from Darlington, considers herself "fairly fortunate" because her condition is pretty stable and is at the milder end of the spectrum.

For many other sufferers, the condition can affect the brain, the eyes and other vital organs, greatly impairing their quality of life. In some cases, the condition dramatically affects the quality and length of life for the sufferer.

While the condition affects one in 5,000 people in the UK, Julia had never read, heard or seen anything about mitochondrial myopathy in the media.

Even more astonishing, the late breaking news that Newcastle University had been given a licence to carry out ground-breaking research into the condition involved her own consultant, Professor Doug Turnbull.

Excited and intrigued by reports that the research would involve the creation of a human embryo with genetic material from two mothers, Julia contacted the BBC and was invited to write a first person piece about her reaction to the news.

Slightly amazed at her new-found ability to connect with the national broadcasting media, she went one step further when she saw that the same story was front page news in last Friday's edition of The Northern Echo.

"I saw the article in The Northern Echo and decided to get in touch.

Your report was rather more balanced and less sensationalised than many. Even so, people still seem to harbour images of Frankenstein science."

Julia fully accepts that there is an ethical dimension to any science involving human genetic material but is keen to get across to people the importance of scientists being allowed to carry out the research.

"The research is at a very early stage. Whether this translates into a usable form of therapy we just don't know. My understanding is that this work is just to see whether it is scientifically possible or safe to prevent mothers passing on 'bad' mitochondria, not about giving someone a baby," says Julia.

Details of the Newcastle University research were released last week after the regulatory body, the Human Fertilisation and Embryology Authority, reversed its earlier decision and gave the team a licence to proceed with their research.

The Newcastle scientists, neurologist Prof Doug Turnbull and Dr Mary Herbert, scientific director of Newcastle Fertility Centre at the city's Centre For Life, want to see if they can screen out 'bad' mitochondria in human embryos.

As reported on the BBC News website, the Newcastle team "plans to experiment on a fertilised egg from a woman, who carries faulty mitochondrial DNA.

The egg, discarded from IVF treatment, will be at such an early stage of its development that it will still only be formed of one cell. The scientists will remove tiny structures called pronuclei, which are destined to become the egg's nucleus. These will then be put into a fertilised egg from another woman with only healthy mitochondrial DNA.

Although this second egg has been fertilised, the pronuclei DNA from the man and woman who made this egg will be removed. The result would be an embryo with pronuclei DNA from the parental egg and sperm but mitochondria - and mitochondrial DNA - from the donor egg.

This embryo would share the overwhelming majority of its DNA - and almost all of its physical characteristics --with its parents. But scientists believe it would also be free of the risk of mitochondrial disease as it would have different mitochondria from its mother.

Julia is excited because this is the first time anyone has suggested that it might be possible to prevent people with mitochondrial myopathy passing it on their children. "This is very relevant to me because I would like to have a family," she says.

Experts are not certain exactly how Julia developed her condition, which lay dormant until she was 28. With most sufferers, there is a clear genetic route but in Julia's case the connection is not clear.

"It came on quite suddenly in May 1998. I just didn't have the energy I used to have," she recalls. "I used to do hill walking in Snowdonia but I found I just couldn't do it any more. What brought it home to me was when I went for a walk with friends, forgot my car keys and when I tried to run back found that I couldn't."

She tried to ignore her illness and carry on but felt "sick and exhausted".

At first, doctors thought it might be multiple sclerosis (MS) or even myalgic encephalomyelitis (ME). It took two years of exhausting tests and a very unpleasant muscle biopsy before doctors told her the grim news.

As far as Julia knows, no-one else in her family has had the condition and doctors cannot trace back the 'bad' mitochondria that she carries. "Apparently I am in a significant minority in that respect," says Julia, who has been told that the risks of passing on her condition to the next generation are probably quite low.

"If it works out, this research will be great news for those who have an identifiable genetic cause for their condition because it will prevent them passing it on."

The Newcastle research is being funded with £167,000 over three years from the Muscular Dystrophy Campaign (MDC), which also represents people with mitochondrial conditions.

Last week, David Harrison, head of research at the MDC said: "The innovative approach being tested by Professor Turnbull may lead to a treatment for a group of conditions that dramatically affect quality and length of life."

But those who take a fundamentalist religious view of such work are deeply uneasy.

Josephine Quantaville from the campaign group Comment on Reproductive Ethics said: "This shows once again that the HFEA does not have any regard for public consultation and the views of the public. It is undesirable to create children in this way. It will shock the world. it is playing around with early human life."

But Prof Turnbull, in one of his few interviews with the media, told the BBC the team did not intend radically to alter an embryo's DNA.

"We are simply changing the energy source," he was reported as saying.

For Julia, who has been a patient of Prof Turnbull for more than four years, the research represents hope for future.

"This condition is the biggest thing in my life. Nothing can be done to cure me but it might help future generations of children."