Gene Mutation Can Harm The Heart Too!

Researchers from the Baylor College of Medicine reported on April 13, 2010 in the Journal of Neuroscience that a gene mutation in the brain of people with epilepsy can create trouble for their hearts and even make them victims of sudden death.

Their findings explained why epileptics (people with epilepsy) who are otherwise healthy can have irregular heartbeat and their likelihood to die suddenly and unexpectedly are more than 10 times than that of the general population. The findings might also help identify people who are likely to have sudden cardiac and provide improved treatment.

Merriam-Webster Online Dictionary defines epilepsy as “any of various disorders marked by abnormal electrical discharges in the brain and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsion.”

You will be surprised to learn that there are a substantial number of epileptics, about 50 million, around the world. Almost 90 percent of them are in developing countries. Though such disorder is more likely to be found among young children or people older than 65 years old, it can occur at any time.

While epilepsy can usually be controlled, it cannot be cured with medication. In some difficult cases, surgery might be an option. There are over 30 percent of epileptics do not have seizure control even with the help of the best available medications.

Researchers focused on abnormal ‘ion channels' in the brain that cause epilepsy as well as put individuals at risk for sudden unexplained death. An ion channel is a protein that allows charged particles leave or enter a cell to generate electrical signals, which is a basic process of nerve cell communication. These ion channels are also responsible for proper heart function, as pointed out in the study.

In the laboratory, electrical signals from the brains and hearts of mice bred to lack of the gene for the ion channel known as Kv1.1 were recorded. The results showed that the hearts of the mice had irregular heartbeat, signs of severe epilepsy and involuntary movement.

The heartbeats became even more erratic when the mice had epileptic seizures. This suggests that the signals from their brains to their hearts were disordered. After several episodes of cardiac arrest, the mice died.