In a clinical analysis that evaluated 150 probands in patients with Brugada syndrome compared with >200 control subjects, wild-type (WT) SCN10A with WT-SCN5A in human embryonic kidney cells caused more arrhythmia effect, including PR interval prolongation (2).
Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.
Dan Hu presented a poster introducing SCN10A
as a new susceptibility gene for Brugada syndrome.
Its neighbor, SCN10A, previously was an unsuspected player in cardiac electrical activity.
To further investigate one of the 22 regions deemed significant, team members used mouse hearts to find where in the heart the ion channel protein products of the SCN10A gene form, locating an abundance of them in the fibers that conduct electrical signals.
The researchers claimed that the damage or mutations to the gene - known as SCN10A - increase the risk of heart disease.
They found that variation in the gene SCN10A was linked with slow and irregular heart rhythms, including risk of ventricular fibrillation.