An international team of researchers identified a new candidate gene linked to myoclonic epilepsy in people while examining dogs with generalised myoclonic epilepsy syndrome. The findings were published in the leading scientific journal Proceedings of the National Academy of Sciences (PNAS).  This discovery might not only help doctors better diagnose myoclonic epilepsy but could also lead to the development of new therapies to treat this type of epilepsy. Moreover, the dog model could help scientists better understand the condition.

What is Myoclonic Epilepsy?

The senior author of the study, Professor Hannes Lohi said in a press release: “The genetic backgrounds of myoclonic epilepsies are not well known yet, and our study provides a new candidate gene, which helps to further characterise the underlying pathophysiology in future studies. This would be important for the development of new treatment scenarios.”

 The co-first author Riika Sarviaho added: “We found a novel epilepsy gene, DIRAS1, which has not been linked to any neurological diseases before. The gene is poorly characterised so far, but some studies suggest that it may play a role in cholinergic neurotransmission, which could be a highly relevant pathway for the myoclonic epilepsies.”

 Cholinergic neurotransmission is the passage of information from one nerve cell to the other via a chemical called acetylcholine, Acetylcholine also plays an important role at the neuromuscular junction, where nerve cells connect with muscle cells controlling their contraction, hence the muscle jerks observed in myoclonic epilepsy.

DIRAS1 is widely expressed in the brain and previous works suggests that it may be regulating the release of acetylcholine and play a role in development of the nervous system. Further research is needed to better understand the role of DIRAS1 in neurotransmission.

Myoclonic epilepsy is one of the most common forms of epilepsy characterised by shock-like jerks in a muscle or groups of muscles. The myoclonic epilepsy observed in the dogs is very similar to human juvenile myoclonic syndrome in many aspects and the study might have meaningful implications for epilepsy research both in dogs and in humans, according to the authors.

Author: Dr Özge Özkaya