23 August 2009

Welsh scientists make epilepsy research breakthrough

ONE of Rome’s greatest warriors, Julius Caesar, suffered from it, as did French Emperor Napoleon and Greek philosopher Socrates.

Now, research by Welsh scientists could lead to radical new treatments for epilepsy.

Half of all cases of the condition are linked to an obvious cause such as a head injury, brain tumour or another neurological disease.

In almost all other cases the condition is believed to have a genetic basis – but so far little progress has been made in identifying the genes responsible.

However, the latest study by the researchers from Swansea University, working with counterparts from the University of Leeds – published this week in the journal PNAS (Proceedings of the National Academy of Sciences) – shows that a mutation in a gene called ATP1A3 can lead to a severe form of epilepsy in mice.

If the findings translate to human beings, they could pave the way for more effective treatments that could in the future make inherited epilepsy a thing of the past.

The study has shown that inherited epilepsy can be halted by silencing the gene responsible for its development.

Professor Mark Rees, leader of the Swansea University arm of the joint research project, said clinical trials are to start soon.

He said: “This study has a great deal of potential for the development of specifically tailored drugs to treat epilepsy. Dr Steve Clapcote (leader of the Leeds University researchers) and I have been working together for some time screening an archive of DNA samples from epileptic patients and we are now applying for grant funding to move forward into clinical trials.

“I am very much looking forward to the results of these trials as results to date are very promising indeed.”

The scientists studied a strain of mouse called Myshkin, which has an inherited form of severe epilepsy.

The mice were found to have a defective version of the gene ATP1A3 which led them to suffer spontaneous seizures.

Researchers managed to breed the defect out of epileptic mice by balancing “good” and “bad” genes – the researchers found genes without the defective version of ATP1A3 cancelled out genes with it during breeding.

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 preventative measures in human epilepsy.”

The human equivalent of the mouse gene matched it by more than 99%, he added.

Simon Wigglesworth, deputy chief executive of the charity Epilepsy Action, welcomed the research yesterday, saying: “This is encouraging news, although it 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 is currently defined as a tendency to have recurrent seizures (sometimes called fits).

A seizure is caused by a sudden burst of excess electrical activity in the brain, causing a temporary disruption in the normal messages passing between brain cells.

This disruption results in the brain’s messages becoming halted or mixed up.

The ancient approach to epilepsy was that it was caused by demons and could be cured by magic or prayers.

Early sufferers such as Julius Caesar, who had a family history of seizures, did their best to hide the affliction as it was seen as a damaging weakness.

Hippocrates was one of the first physicians to recognise it as a physical ailment.

Famous people with epilepsy include:

Kyffin Williams, the Welsh landscape painter, had to end his army career due to epilepsy.

Vladimir Lenin, First Premier of the Soviet Union. His final year was characterised by neurological decline and in his last few months, he developed epilepsy. His seizures worsened and he died in status epilepticus, which had lasted 50 minutes.

Canadian singer songwriter Neil Young, 63, disliked the effects of his medication for the condition and sought “personal stability” as an alternative means of control.

Mike Skinner, 31, frontman of The Streets, had epilepsy between the ages of seven and 20.

Former cricket star Tony Greig, who is involved with Epilepsy Action Australia, had his first seizure aged 14, during a tennis game, but has successfully controlled his epilepsy with medication.

Boxer Terry Marsh, 51,was IBF world light-welterweight champion but his diagnosis of epilepsy in 1987, aged 29, forced him into retirement undefeated.

Max Clifford, 66, the publicist, developed epilepsy at the age of 46.

Laurie Lee, the writer most famous for his autobiographical trilogy, which includes Cider with Rosie, developed epilepsy after he was knocked down by a bicycle at the age of 10. He kept it secret and it only surfaced when his papers were read by biographers after his death.

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