Proof of epilepsy gene paves way for more effective treatments

August 4, 2009

(ChattahBox) — Scientists have prevented epilepsy caused by a faulty gene from being passed down the generations in mice. The study is published today in the US journal Proceedings of the National Academy of Sciences (PNAS). It offers, for the first time, irrefutable proof that a faulty version of a gene known as Atp1a3 is responsible for causing epileptic seizures in mice.

The key gene, Atp1a3, regulates levels of chemicals such as sodium and potassium in brain cells. It has long been suspected that an imbalance of these chemicals may cause some cases of epilepsy.  The University of Leeds study, raises hopes of new treatments for the condition but more work is needed to determine whether the same mechanism is in play in humans.  However the human ATP1a3 gene is more than 99% the same as the mouse version.  Epilepsy is a common neurological condition that affects almost one in every 200 people. However, the causes are unknown in the majority of cases. Current drug treatments are ineffective in around one third of epilepsy patients.

Lead researcher Dr Steve Clapcote said: “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 Leeds team worked on Myshkin mice, which have a tendency to develop seizures. They showed that those animals who did develop seizures carried a specific defective version of Atp1a3. These mice responded when treated with the common anti-epileptic medication valproic acid – proving that they did indeed have a form of epilepsy. To try to counter this, the researchers bred the epileptic mice with animals that carried an extra copy of the normal Atp1a3 gene. The addition of the normal gene counteracted the faulty gene in the resulting offspring – which were completely free from epilepsy.

Dr Clapcote 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 preventive measures in human epilepsy.”

“Our results are very promising, but there’s a long way to go before this research could yield new antiepileptic therapies.”

Dr Clapcote said his team had started to screen DNA samples from epilepsy patients to investigate whether Atp13a gene defects were involved in the human condition.

Commenting on the research, Delphine van der Pauw, Research and Information Executive at Epilepsy Research UK said: “These results are promising. Not only have Dr Clapcote and his team highlighted a new culprit gene for epilepsy in mice; but they have also shown how normal activity of the affected sodium-potassium pump can be restored. If the findings can be repeated in human studies, new avenues for the prevention and treatment of inherited epilepsy will be opened.”

Via: BreakThroughDigest Medical News


Comments

2 Responses to “Proof of epilepsy gene paves way for more effective treatments”

  1. Epilepsy » GPs would get new incentives to treat diabetes under Nice proposals - Times Online on August 10th, 2009 6:03 am

    […] Proof of epilepsy gene paves way for more effective treatments – Chattahbox.com(ChattahBox) — Scientists have prevented epilepsy caused by a faulty gene from being passed down the generations in mice. The study is published today in the US journal Proceedings of the National Academy of Sciences (PNAS). It offers, for the … […]

  2. Article Museum » Blog Archive » Proof of epilepsy gene paves way for more effective treatments … on August 13th, 2009 4:36 pm

    […] the original post:

Got something to say? **Please Note** - Comments may be edited for clarity or obscenity, and all comments are published at the discretion of ChattahBox.com - Comments are the opinions of the individuals leaving them, and not of ChattahBox.com or its partners. - Please do not spam or submit comments that use copyright materials, hearsay or are based on reports where the supposed fact or quote is not a matter of public knowledge are also not permitted.