QPRT
The QT Prolongation Gene: Unveiling the Secrets of Heart Rhythm Disorders
Description:
The qprt gene, also known as KCNQ1, holds the blueprint for a protein crucial for the heart‘s electrical system. This protein forms ion channels on the surface of heart cells, allowing potassium ions to flow in and out, thereby influencing the timing and duration of heartbeats. Mutations in the qprt gene can disrupt this delicate balance, leading to a condition known as long QT syndrome (LQTS).
Associated Diseases:
LQTS is a rare but potentially life-threatening heart condition characterized by an abnormally prolonged QT interval, which measures the time it takes for the heart to charge and recharge between beats. This prolonged QT interval increases the risk of potentially fatal arrhythmias, such as:
- Torsades de pointes (TdP), a rapid and chaotic heart rhythm
- Sudden cardiac arrest (SCA), which can occur without warning
LQTS is often inherited, with specific mutations in the qprt gene identified in various LQTS subtypes. However, it can also be acquired, triggered by certain medications or underlying medical conditions.
Did you Know ?
Approximately 1 in 2,000 individuals carry a mutation in the qprt gene, making it one of the most common genetic causes of sudden cardiac death in young people.
