Epilepsy genes’ mutations may cut each other; prevent seizures

November 14th, 2007 - 8:28 am ICT by admin  
“In the genetics of the brain, two wrongs can make a right,” said Nature Neurology quoted Dr. Jeffrey L. Noebels, a professor at Baylor College of Medicine (BCM), as saying.

“We believe these findings have great significance to clinicians as we move toward relying upon genes to predict neurological disease,” he added.

The researchers say that their finding may lead to new ways for treating epilepsy using gene-directed therapy.

“If you have a potassium channel defect, then a drug blocking certain calcium channels might also benefit you,” said Dr. Noebels.

The researchers bred mice with two defective genes-Kcna1 and a calcium channel gene (Cacna1a)-that govern ion channels, tiny pores in cells that allow molecules such as potassium and calcium to flow in and out.

According to them, the genes were known to cause epilepsy when inherited singly within families, and they have also been found in a large-scale screen of people with non-familial seizure disorders being performed in collaboration with the Baylor Human Genome Sequencing Center.

The researchers found that the occurrence of both types of mutation reduced seizures dramatically in mice, and prevented them from the sudden death associated with the potassium channel problem.

“Rather than screening for ‘bad’ genes one at a time, it may be essential to create a complete profile of many or even all genes in order to accurately assess the true genetic risk of any single defect in many common disorders such as epilepsy. Fortunately, this amount of background information will soon become routinely obtainable in individual patients thanks to rapid technological progress in the field of neurogenomics,” said Dr. Noebels.

The researchers admit that many different genes could lead to seizure disorders, and that previous studies had that indicated that combinations of such genes could make epilepsy worse.

They, however, said that certain combinations might actually prevent the abnormal patterns of epilepsy. (ANI)

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