Scientists have discovered a gene that contributes to sudden death in young people.
An international group of scientists from Canada, South Africa and Italy have identified a gene that contributes to sudden death among young people, especially athletes. Article researchers published in the journal Circulation: Cardiovascular Genetics.
Mutations in the identified gene, referred CDH2, cause arrhythmogenic dysplasia of the right ventricle. This is a hereditary disease characterized by impaired activity of cardiac muscle. Muscle tissue is replaced by connective, which leads to tachycardia and fibrillation. It is known that this pathology is the cause of death of apparently healthy people at the age of about 35 years.
Scientists have determined the sequence of coding DNA from two members of the same family, who suffered from arrhythmogenic dysplasia. Were analyzed more than 13 thousand genes present in the same variant in both patients.
Protein CDH2 encodes N-cadherin, which is embedded in the cell membrane and is involved in the formation of contacts between cells of the heart muscle. His participation in the development of heart failure was confirmed through the discovery of the second type of mutation affecting a gene in a patient with dysplasia of other family.
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