Epilepsy and neurodegenerative disorders ‘may be genetically linked’

Posted Jul 23 2014 in Brain science; genetics

Scientists from the University of Iowa have uncovered a possible genetic link between epilepsy and neurodegenerative disorders, which could be examined as a means of improving treatment of both conditions.

Published in the Proceedings of the National Academy of Sciences, the research builds on the previous understanding that mutations in certain genes – known as prickle genes – can be responsible for causing epilepsy.

The team has been able to identify the basic cellular mechanism that malfunctions in flies with prickle mutations that eventually result in epilepsy-like seizures, including uncoordinated gaits and electrophysiological defects.

Moreover, altering the balance of two forms of the prickle gene was shown to disrupt neural information flow and cause epilepsy, while reducing one of two associated motor proteins reversed the effect, curing the flies of the condition.

It was observed that this new epilepsy pathway was previously shown to also be involved in neurodegenerative diseases such as Alzheimer's and Parkinson's, suggesting the conditions can be caused by the same genetic mutations and variations.

This opens the door for new fields of research that would see both epilepsy and neurodegenerative disease tackled according to the same principles.

John Manak, senior author and associate professor of biology in the College of Liberal Arts and Sciences and paediatrics in the Carver College of Medicine, said: "We are particularly excited because we may have stumbled upon one of the key genetic links between epilepsy and Alzheimer's, since both disorders are converging on the same pathway."

He added: "If this connection is real, then drugs that have been developed to treat neurodegenerative disorders could potentially be screened for anti-seizure properties, and vice versa."

Previous studies have already shown that patients with inherited forms of Alzheimer's disease also tend to present with epilepsy, meaning the researchers' current hypothesis has precedent.

Health professionals in the UK will be keen to establish new methods of treating neurodegenerative conditions of this kind, due to the fact they are becoming more prevalent as the average age of the population increases.

Posted by Anne Brown

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