The research, conducted on mice at the University of Leeds, will pave way for preventing the disorder in human beings as well.
Dr Steve Clapcote, lead author of the study said, "Our study has identified a new way in which epilepsy can be caused and prevented in mice, and therefore it may provide clues to potential causes, therapies and preventative measures in human epilepsy."
Supplementary gene offsets impact of faulty gene
For the purpose of the study, the scientists analyzed a strain of mouse called Myshkin. These mice had a faulty version of the gene Atp1a3 that led to spontaneous seizures, a severe form of epilepsy.
When treated with anti-epilepsy drug valproic acid, these mice had fewer attacks, with less severity.
Scientists aver that this defective version of the gene produces an enzyme called sodium-potassium pump. This enzyme is responsible for passing on the disorder to the children.
However, when theses Myshkin mice were genetically bred with an extra copy of the normal Atp1a3 gene, the results were pretty encouraging. Their progeny was completely hale and hearty and absolutely free of epilepsy.
Researchers found that the two genes
counter-acted each other. In fact, the extra normal gene that was genetically injected offset the adverse impact of the faulty gene.
Dr Steve Clapcote said of the findings, "An imbalance of sodium and potassium levels has long been suspected to lead to epileptic seizures. But our study is the first to show beyond any doubt that a defect in this gene is responsible.”
Effect on human beings
The next challenge for the doctors is to replicate the results of the present study in humans. The encouraging fact is that the human ATP (12A)3 gene matches the mouse version of the gene by as much as 99 per cent.
Researchers from the University of Leeds have already started screening DNA samples from epilepsy patients to take the research to the next level.
Words of caution
Simon Wigglesworth, deputy chief executive of the charity Epilepsy Action hailed the research as encouraging but cautioned, “Is too early to say whether this treatment will work for humans. At the moment there is no treatment to cure epilepsy, other than surgery, which is only effective for small numbers."
“Epilepsy Action welcomes any research which may have positive implications for people with epilepsy,” he added.
The findings of the study have been published in the US journal Proceedings of the National Academy of Sciences (PNAS).
Post new comment