Leeds scientists herald epilepsy breakthrough after mice gene tests

By Culture24 Staff | 05 August 2009
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A picture of a mouse

(Above) Tests on epileptic mice by scientists from the University of Leeds may have revealed a new way of treating the neurological condition in humans. Pic: George Shuklin

Scientists in Leeds are hailing a breakthrough for epilepsy treatment after discovering a faulty version of a gene shared by humans causes the seizures in mice.

Researchers at the University of Leeds' Faculty of Biological Sciences balanced chemicals in the ATP1A3 gene to prevent the defect being passed on by the sample of squeaky specimens.

"ATP1A3 makes an enzyme called a sodium-potassium pump that regulates levels of sodium and potassium in the brain's nerve cells," said Lead Researcher Dr Steve Clapcote.

"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."

The findings, published today in American journal Proceedings of the National Academy of Sciences, studied a "special strain" of mice with an inherited form of severe epilepsy.

Investigators added an extra copy of the normal gene to the rodents, counteracting its damaged counterpart to produce offspring free from the condition.

"Our results are very promising, but there's a long way to go before this research could yield new antiepileptic therapies," added Clapcote.

"However, the human ATP1A3 gene matches the mouse version of the gene by more than 99 percent, so we’ve already started to screen DNA samples from epilepsy patients to investigate whether ATP1A3 gene defects are involved the human condition."

Almost one in 200 people suffer from epilepsy, with current drug treatments providing ineffective in a third of patients.

Delphine van der Pauw, Research and Information Executive at Epilepsy Research UK, echoed Clapcote's optimism.

"Dr Clapcote and his team have highlighted a new culprit gene for epilepsy in mice and shown how normal activity of the affected sodium-potassium pump can be restored," she observed.

"If the findings can be repeated in human studies, new avenues for the prevention and treatment of inherited epilepsy will be opened."

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