Genetics and heart disease
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Updated: Sep 27, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
1Department of Cardiology, King Fahd Armed Forces Hospital, Jeddah, Kingdom of Saudi Arabia. drhcpasha@hotmail.com
Abstract:
Production of genome sequence has recently skyrocketed with many advances in the understanding and etiology of certain diseases. Researchers have localized a region of the human genome that plays a role in determining a persons susceptibility to myocardial infarction. A new apolipoprotein gene that influences triglyceride levels in humans is also described. A recent study from Finland showed that certain families are likely to carry a genetic form of insulin resistance syndrome that predisposes them to accelerated atherosclerosis. Researchers identified 3 mutations in the gene producing a protein called metavinculin, which appears to be linked to abnormalities in cellular structures and function in patients with dilated cardiomyopathy. Gene therapy has emerged as a genuine therapeutic option with the potential to alter the manner in which cardiologists manage the 2 most common cardiac disorders--coronary artery disease and congestive heart failure. Along with angiogenesis and gene therapy, cell transplantation is one of the newest treatment modalities proposed to improve the outcome of patients with cardiac failure. Two major advances in stem cell therapy for cardiovascular disease were published recently. They demonstrate how bone marrow stem cells can regenerate myocardium in the infarct area of a mouse heart. A German Cardiologist has for the first time successfully transplanted a patients own stem cells in an infracted area in the heart. This review summarizes the current knowledge of the genetic associations with cardiac diseases.
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