Doctors often treat diseases in a one-size-fits-all way, but some conditions have different causes for different people.
A recent study by researchers from Vanderbilt University and Northwestern University suggests that a more personalized approach could help people with Long QT Syndrome (LQTS), a heart condition that causes irregular heartbeats.
LQTS is a genetic disorder caused by mutations in the KCNQ1 gene. This gene controls potassium channels in the heart, which help reset the heart’s electrical activity after each beat.
If these channels do not work properly, the heart takes longer to recover, leading to an irregular rhythm that can sometimes be dangerous. Scientists have found over 2,500 different mutations in this gene, but they do not fully understand how each one affects the heart. This makes it difficult to find the best treatment for each patient.
To learn more, the researchers studied 61 different KCNQ1 mutations to see how they affect the heart. They used three different tests to examine the potassium channels:
- Surface Testing – They checked if the channels reached the surface of heart cells, which is necessary for them to function properly.
- Heat Stability – They heated the channels to see if they remained stable. Some stayed strong, while others broke down more easily.
- Electrical Activity – They measured how well the channels allowed electrical currents to pass through.
Traditionally, scientists believed that LQTS was caused by potassium channels that did not function well. However, this study found that mutations affect the channels in five different ways:
- Some mutations allowed channels to reach the surface but reduced their activity.
- Some made the channels respond differently to electrical signals.
- Some caused the channels to become unstable and break down.
- Some prevented the channels from reaching the cell surface.
- Surprisingly, some mutations had little or no effect, meaning they might not cause the disease.
This discovery suggests that not all LQTS patients should receive the same treatment. Instead, treatment should depend on the specific mutation a patient has. For example, one patient may need a drug that boosts potassium channel activity, while another may need a drug that slows it down.
The researchers also tested eight computer programs that predict whether a gene mutation is harmful. Some of these programs worked well for predicting unstable channels but struggled with other types of mutations.
One program, REVEL from Stanford University, had the highest accuracy at 85%. However, a widely known artificial intelligence tool, AlphaMissense by Google DeepMind, did not perform as well. The researchers hope future studies will improve these prediction tools.
This study is an important step toward personalized medicine, where treatments are tailored to each patient’s unique genetic makeup. The researchers believe their findings could help doctors provide more effective treatments for LQTS patients.
In summary, this study challenges the traditional understanding of LQTS and highlights the need for more precise treatments. Instead of assuming all patients have the same problem, doctors may soon be able to identify the exact cause of the disease in each person and treat them accordingly.
This research not only benefits LQTS patients but also contributes to the growing field of precision medicine, where treatments are based on an individual’s genes rather than a one-size-fits-all approach.
If you care about heart disease, please read studies that herbal supplements could harm your heart rhythm, and how eating eggs can help reduce heart disease risk.
For more health information, please see recent studies that apple juice could benefit your heart health, and results showing yogurt may help lower the death risks in heart disease.
The research findings can be found in PNAS.
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