Gene causes epilepsy is found

Scientists have discovered the cause of epilepsy in human beings. They have identified a defective gene which is responsible for causing epileptic seizures in the mice. The gene known as Atp1a3 is almost identical to gene found in human beings. It regulates the amount of sodium & potassium in the brain. They found that mice had seizures because they were not producing enough enzymes known as sodium-potassium pump.

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They are now hoping to produce the medication for human beings which can keep the level of required enzymes high & eliminate the causes of almost half of epileptic fits. Dr Steven Clapcote & his team controlled the enzymes by breeding the mice with the genetic defect, with artificially engineered mice, which produced too much of the enzyme.

They found that the offspring of the mice were born without the defective gene & without the epileptic seizures. This could yield new drugs to fight the condition in humans. He said that the study may provide clues to potential causes, therapies & preventive measures in human epilepsy.

Dr Clapcote said, “We have in effect found a new epilepsy gene which is almost 99 per cent identical to a similar gene found in humans & consequently we could develop new drugs. Our results are very promising, but there's a long way to go before this research could yield new anti-epileptic therapies.” Scientists were aware that 50 % of all epilepsy in humans had presumed genetic origins.

They examined the DNA of the mice, known as Myshkin & they discovered that the Atp1a3 gene controlled a sodium-potassium pump enzyme. The enzyme controls the amount of sodium & potassium delivered to neurons in the brain. When there were not enough enzymes that were when seizures occurred.

They also found that mice had half of the amount of enzyme needed to remain healthy & an ineffective amount of the enzyme was the cause of the seizures. The findings if can be repeated in human beings, the avenue for prevention & treatment of inherited epilepsy will be opened.


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