Fix for faulty gene may cure epilepsy

Author: By Kevin Rawlinson

Scientists at Leeds University said they had proved that a faulty version of
the gene which makes an enzyme called sodium-potassium pump is responsible
for passing on the disorder.

The mice, which have the faulty gene, known as ATP(12A)3, were bred so that
they also carried a normal version of the same gene. Researchers found that
the two genes counter-acted each other, preventing the condition from being
passed from generation to generation.

The study, published yesterday in the US journal Proceedings of the National
Academy of Sciences (PNAS), could be good news for the estimated 450,000
British epileptics.

“Our study has identified a new way of in which epilepsy can be caused
and prevented in mice, therefore it may provide clues to potential causes,
therapies and preventative measures in human epilepsy,” said lead
researcher Dr Steve Clapcote.

The enzyme regulates the levels of sodium and potassium in the brain’s nerve
cells. “An imbalance of sodium and potassium levels has long been
suspected to lead to epileptic seizures,” said Dr Clapcote. “But
our study is the first to show beyond any doubt that a defect in this gene
is responsible,” he added.

Epilepsy charities welcomed the development. 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.

“The road will be long, we don’t even know if any eventual treatment will
be safe for humans. But we have taken the first step and it is a big step.
This is a very exciting development.”

Research has already begun on how the gene defects affect humans. “The human
ATP(12A)3 gene matches the mouse version of the gene by more than 99 per
cent, so we’ve already started to screen DNA samples from epilepsy
patients,” said Dr Clapcote.

Ms van der Pauw added that not all cases of epilepsy are caused by genetic
disorders. “Epilepsy can be caused by brain trauma as well as a number of
other things. But if it is shown that this gene is the cause of a lot of the
cases in humans, then we would support genetic screening being made
available on the NHS, even if it is unlikely.

“Epilepsy is already quite low down on the Government’s list of funding
priorities and there is a stigma attached to the condition. Anything which
helps remove that is good news.”

Simon Wigglesworth, deputy chief executive of Epilepsy Action, agreed that
while it was too early to say whether the treatment would work on humans, it
was nevertheless “encouraging news”.

He said: “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

Current drug treatments are ineffective in around one third of epilepsy
patients ? an estimated 150,000 people in Britain.

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