KCNE1L
The kcne1L Gene: A Molecular Key to Heart Health
Description
The kcne1L gene (pronounced "kuh-knee-one-el") is a critical player in the electrical system of the heart. Located on chromosome 21, this gene provides instructions for making a protein called potassium voltage-gated channel protein EAG1-like 1 (KvEag1L).
KvEag1L is a component of the IKr potassium channel, a specialized channel that allows potassium ions to flow out of heart muscle cells. This outflow of potassium ions plays a vital role in regulating the heart's rhythm and ensuring a steady, synchronized heartbeat.
Associated Diseases
Mutations in the kcne1L gene have been linked to several cardiac arrhythmias, including:
- Long QT syndrome (LQTS): A condition characterized by a prolonged QT interval on an electrocardiogram (ECG), increasing the risk of potentially fatal arrhythmias.
- Brugada syndrome (BrS): A rare genetic condition that causes abnormal electrocardiogram patterns and can lead to ventricular fibrillation, a life-threatening arrhythmia.
- Sudden infant death syndrome (SIDS): A leading cause of death in infants under 1 year of age, often linked to underlying cardiac arrhythmias.
Did you Know ?
Approximately 1 in 5,000 people worldwide carry a mutation in the kcne1L gene associated with LQTS. While rare, LQTS can have a significant impact on affected individuals, with a 50% risk of sudden cardiac death if left untreated.
