AsianScientist (Jun. 23, 2016) – Researchers have confirmed a link between RNA abnormalities in the cardiac sodium channel and heart arrhythmia in myotonic dystrophy. This finding, published in Nature Communications, will be helpful in the prevention and early intervention of death in this disease.
Myotonic dystrophy (DM) is the most common muscular dystrophy in adults. However, there is currently no cure for DM, and there are significant cases of sudden death suspected to be due to heart arrhythmia.
RNA abnormalities have been known to cause various systemic manifestations of DM—abnormally expanded RNA accumulates in the nuclei and inhibits the proteins necessary for RNA splicing.
Now, an international research group led by Takahashi has found RNA splicing abnormalities to be present in the cardiac sodium channel in DM patients. Using electrophysiology, the group examined the function of an abnormal sodium channel and found that it was compromised. These findings suggest that patients manifested conditions similar to a genetic disease called Brugada syndrome, which leads to fatal heart arrhythmia.
When the RNA abnormalities were introduced in mice, the animals developed heart arrhythmia. In addition, a computer simulation demonstrated that the compromised sodium channel function led to abnormalities that were similar in patients.
The article can be found at: Freyermuth et al. (2016) Splicing Misregulation of SCN5A Contributes to Cardiac-Conduction Delay and Heart Arrhythmia in Myotonic Dystrophy.
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Source: Osaka University; Photo: Shutterstock.
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