A gene fault has been identified which contributes towards a severe form of spina bifida. Scientists at London's Institute of Child Health and Imperial College have been searching for the genetic link for ten years. They now plan to develop a screening test for at-risk parents. It is also hoped that the discovery will lead to the development of a drug that will counter the effects of having the faulty gene to prevent spina bifida occurring.
The mutation on gene Lpp1 was found in a particular species of mouse which are known to inherit a severe form of the condition. The data from the mice were then compared to the human genome and a human version, LPP1, was found. Patients with spina bifida are now being examined to see if they carry the gene. Although it is believed that several genes interact in order to cause the neural tube defects associated with the condition and that environmental factors will play a part, the scientists think that the one that has been identified may play a part in one in five cases.
Sources and References
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Gene discovery offers insight into spina bifida
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Gene breakthrough in spina bifida fight
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Gene discovery on spina bifida
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