Identified gene that causes sudden death of young people
Identified gene that causes sudden death of young people

Identified gene that causes sudden death of young people

Выявлен ген, являющийся причиной внезапной смерти молодых людей  As a result of studies conducted by scientists from an international group, a gene was discovered whose mutation causes sudden death of people under the age of 35 years. Based on the results of the research, it was concluded that the genetic disease leading to arrhythmogenic cardiomyopathy of the right ventricle of the heart (ARVC) is caused by the CDH2 gene, which leads to the death of patients. The problem has been studied for 15 years by an international group of scientists from three countries. The work was carried out by scientists from South Africa, led by Bongani Mayosi, a professor from the University of Cape Town, scientists from the University of Canada at Macmaster, led by Professor Guillaume Pare and a group of scientists from universities in Italy (Milan and Pavia). The discovery is of particular relevance for people whose relatives died suddenly of a heart attack. Studies have proven the hereditary nature of this disease caused by a CDH2 mutation. Professor Pare argues that the discovery of the gene will help to carry out certain preventive and diagnostic measures in the early stages of the disease. Canada alone loses about 40 thousand people a year from sudden cardiac arrest, and if cardiac arrest occurs outside the hospital, only one person survives out of ten. Sudden cardiac arrest in young people, under 35, is often caused by a hereditary form of cardiomyopathy, which leads to the replacement of heart tissue with fibrous and adipose tissue. This process leads to tachycardia and ventricular fibrillation, causing loss of consciousness and death of the patient. In the absence of qualified personnel and a defibrillator, death can occur quickly within a few minutes. Scientists came to the conclusion about the hereditary nature of the influence of the CDH2 gene on the development of ARVC cardiomyopathy by examining more than 13 thousand genetic sections of DNA taken from two sick relatives (family screening) living in South Africa. Further research will have a great impact on the diagnosis of the disease, awareness of the mechanisms of the course of the disease and ways to cure it. \

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