HCN4 : hyperpolarization activated cyclic nucleotide gated potassium channel 4
Description
The human heart is a remarkable organ that beats tirelessly, day in and day out. This rhythmic contraction is controlled by a specialized electrical system, and the HCN4 gene plays a crucial role in this process.
HCN4 stands for hyperpolarization-activated cyclic nucleotide-gated ion channel 4. It encodes a protein that forms a channel in the cell membrane, allowing positively charged ions (potassium and sodium) to flow into heart muscle cells. This ion movement is essential for generating the electrical impulses that initiate and maintain a regular heartbeat.
Associated Diseases
Mutations in the HCN4 gene can lead to several heart conditions, including:
- Sick Sinus Syndrome (SSS): SSS occurs when the sino-atrial (SA) node, the natural pacemaker of the heart, malfunctions. This can cause a slow or irregular heartbeat.
- Atrial Fibrillation (AF): AF is a type of irregular heartbeat that can occur when electrical impulses in the heart become chaotic.
- Long QT Syndrome (LQTS): LQTS is a rare genetic condition that can lead to dangerously fast heart rhythms.
Did you Know ?
A study published in the journal HeartRhythm found that mutations in the HCN4 gene account for approximately 10% of all cases of SSS.
