Mouse helps in spina bifida fight

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The Independent Online
A mouse called Splotch has helped scientists take a big jump forward in the battle to conquer spina bifida, it was revealed yesterday. Researchers have isolated a defective gene in Splotch - so-called because of a white spot on her belly.

They believe the rogue gene is the key to why she gives birth to babies with the mouse equivalent of spina bifida, which can cripple or kill. The gene is called Pax 3, and the birth defect it causes can be prevented with supplements of the B-vitamin folic acid - which also helps prevent spina bifida in 70 per cent of humans.

Professor Andy Copp, from the University of London, who is heading the research, said "This gene is unlikely to be a major cause of spina bifida in humans, but we think that biochemically the process is very similar. The next step is to look inside the embryo and to see how the biochemical pathways are being altered by the Pax 3 mutation and how this is put right by folic acid."

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