Scientists Identify Defective Gene Linked to Common Heart Disease

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00:00Scientists identify defective gene linked to common heart disease.

00:05Israeli researchers identified the TRIM63 gene's link to hypertrophic cardiomyopathy,

00:11the most common inherited heart disorder.

00:14Conducted by the Clallet Research Institute and Rabin Medical Center,

00:18the study underscores TRIM63's role in HCM, enhancing genetic understanding,

00:24patient screening, and promising early diagnosis and personalized care.

00:33Hypertrophic cardiomyopathy affects 1 in 500 globally,

00:38causing heart wall thickening and poor blood pumping.

00:41Symptoms range from fatigue to sudden cardiac arrest.

00:45The TRIM63 mutation discovery provided genetic clarity,

00:49showing 4.7 percent had biallelic pathogenic variants and 7.5 percent a single faulty copy,

00:57with mutations 8.2 times more frequent in HCM patients.

01:05A TRIM63 mutation leads to severe heart muscle thickening and irregular heartbeats,

01:11requiring early genetic screening.

01:13It allows timely interventions, like lifestyle changes, potentially preventing fatal events,

01:20highlighting genetic screening's impact on heart disease management.

01:27The TRIM63 discovery is pivotal, advocating for its inclusion in screenings for early HCM diagnosis.

01:35Early detection enables proactive health management, targeting disease routes.

01:40It emphasizes genetic literacy's importance, highlighting genetic testing's transformative role in heart disease management.

01:51The TRIM63 gene's role in hypertrophic cardiomyopathy enables early testing, personalized care,

01:58and targeted treatments, empowering patients, and advancing the future of personalized medicine.