A major breakthrough in heart disease research has identified the gene TRIM63 as a significant cause of hypertrophic cardiomyopathy (HCM), the most common inherited heart condition globally.
The study, led by researchers from Israel’s Rabin Medical Center and the Clalit Research Institute, was recently published in Circulation: Genomic and Precision Medicine. The findings are expected to reshape how doctors screen for and treat this potentially life-threatening disease.
HCM affects the heart muscle, causing it to thicken. This can lead to serious complications such as irregular heartbeats, fainting, or even sudden cardiac arrest. It’s a leading cause of sudden death in young athletes and often goes undiagnosed until symptoms become severe. Understanding the genetic roots of the disease is essential for early detection and prevention.
In this study, researchers analyzed the genetic data of 107 unrelated HCM patients from a wide range of ethnic backgrounds, including Ashkenazi Jews, Muslim Arabs, and North African and Middle Eastern Jewish communities. Using advanced genetic tools called exome-based gene panels, the team uncovered new and convincing evidence linking mutations in TRIM63 to HCM.
They found that 4.7% of patients had two faulty copies of TRIM63 (called biallelic variants). These individuals developed early and severe forms of the disease, often requiring life-saving devices like implantable defibrillators before they were even diagnosed genetically.
Another 7.5% of patients had just one faulty copy of the gene (monoallelic variants), yet even this was linked to a much higher risk of developing HCM—more than eight times higher than in the general population.
One newly discovered mutation (c.277C>T) stood out in people of Libyan Jewish descent, where it was found to be relatively common. The researchers estimate that about 1 in 14,400 people in this group may carry this mutation, highlighting the importance of genetic screening in specific communities with shared ancestry or a history of intermarriage.
“This is a life-saving discovery,” said Dr. Noa Ruhrman Shahar, one of the lead authors. “By identifying people who carry dangerous TRIM63 mutations, we can monitor them early and take action before serious heart issues develop.”
Professor Shay Ben-Shachar, who co-led the study, added, “We now have a clearer picture of how this gene works, and this knowledge allows us to offer more personalized care and prevent life-threatening outcomes.”
Despite its importance, TRIM63 has not yet been widely included in many commercial genetic tests for HCM. This is largely because its role in heart disease was not well understood until now. The new findings make a strong case for immediately adding TRIM63 to these tests, especially when screening high-risk or underrepresented groups.
The study also points to the benefits of using exome-based genetic testing instead of traditional gene panels. This newer method makes it easier to add new genes to the test as more are discovered, giving doctors and patients access to the most up-to-date information.
If TRIM63 is added to standard genetic screening for HCM, it could lead to:
- Faster and more accurate diagnoses
- Early monitoring for patients and their relatives
- Treatment plans based on each person’s genetic risk
- Better long-term outcomes and quality of life for patients
“These findings could change the lives of millions of people worldwide,” said Dr. Ruhrman Shahar. “We now know that this mutation can cause severe heart disease, and we must start recognizing it as a major risk factor. With this knowledge, we can offer better care, prevent emergencies, and save lives.”
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The research findings can be found in Genomic and Precision Medicine.
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