Reproductive medicine: The power of three
Nature. 2014 May 21;509(7501)
Ewen Callaway


Short description:
Douglass Turnbull spends much of his time seeing patients who have untreatable, often fatal, diseases. But the neurologist has rarely felt more helpless than when he met Sharon Bernardi and her young son Edward.
Bernardi had lost three children within hours of birth, owing to a mysterious build-up of acid in their blood. So it was a huge relief when Edward seemed to develop normally. "He did all his milestones: he sat up, he crawled and started to walk at 14 months," Bernardi recalls. But when he was about two years old, he began to fall over after taking a few steps; he eventually started having seizures. In 1994, when Edward was four, he was diagnosed with Leigh's disease, a condition that affects the central nervous system. Doctors told Sharon that her son would be lucky to reach his fifth birthday.
Turnbull, who works at Newcastle University, UK, remembers despairing that "whatever we do, we're never going to be able to help families like that". His frustration sparked a quest to develop assisted-reproduction techniques to prevent disorders such as Leigh's disease, which are caused when children inherit devastating mutations in their mitochondria, the cell's energy-making structures.
The procedures — sometimes called three-person in vitro fertilization (IVF) — involve transferring nuclear genetic material from the egg of a woman with mutant mitochondria into another woman's healthy egg. Turnbull and others have tested the techniques in mice, monkeys and human egg cells in culture; now, they say, it is time to try them in people. The UK Parliament is set to vote on the issue later this year; if legislation passes, the country would be the first to allow this kind of genetic modification of unborn children.
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