Matters of the heart
Geneticists have learned to predict fatal heart disease
British scientists have developed a method of genetic testing that allows predicting the course of hypertrophic cardiomyopathy – a dangerous heart disease that can lead to sudden death.
The results of the study are published in the journal Nature Genetics (Harper et al., Common genetic variants and modifiable risk factors underlying hypertrophic cardiomyopathy susceptibility and expressiveness).
Hypertrophic cardiomyopathy (HCM) – a heart disease characterized by thickening of the heart muscle – is called a silent killer or a time bomb, as it often proceeds asymptomatically. But if it is not detected and treated in a timely manner, it can cause sudden death from cardiac arrest even in young people. In particular, this is one of the most frequent causes of death of young athletes.
The disease is conditionally classified as hereditary, because it is caused by rare genetic defects – mutations of genes encoding the synthesis of myocardial contractile proteins. At the same time, scientists still could not understand why some family members with characteristic mutations develop it, while others do not, and why some people without these mutations still sometimes have GKMP.
Researchers from Oxford University compared the DNA of 2,780 people with HCMP and 47,486 people without HCMP and found different types of genetic changes in the DNA of people with hypertrophic cardiomyopathy. It turned out that HCMP can cause both rare hereditary genetic mutations and common mutation variants. The latter are not inherited and pose less danger to the carrier itself.
"This is a groundbreaking discovery that could be the biggest advance in our knowledge of the genetic basis of the disease in 25 years," the press release says. The British Heart Foundation (BHF), which funded the research, the words of project leader Hugh Watkins, professor of medicine and director of the BHF Center for Advanced Research at Oxford University. – Now we have a new genetic tool that, we believe, better predicts which family members will have a severe form of the disease, and identifies those who need early intervention. It will also save many families from anxiety, because it allows you to identify those who are unlikely to pass on defective genes to their children. This will reduce the need for unnecessary genetic testing and regular observations."
"HCMP is one of the most common hereditary heart diseases affecting thousands of families in the UK. These discoveries will bring long–awaited answers to many families and eliminate the need for regular clinical examinations and anxiety," notes another author of the study, Professor Nilesh Samani, cardiologist and medical director of BHF.
As an example, the authors cite the case of 63-year-old Charles from Birmingham, who was diagnosed with hypertrophic cardiomyopathy in May 2016. Charles and his wife were very worried that the disease would be transmitted to their 13 and 16-year-old children who are actively involved in sports.
Genetic testing showed that Charles had a type of HCMP caused by genetic errors in common variants. This means that he is unlikely to pass the disease on to his children, and his own prospects are much brighter.
"This news has removed a lot of anxiety in our family," BHF quotes Charles as saying. "These genetic discoveries have really changed our lives and will change the lives of many other families."
The authors also found out that in the case of HCMP associated with common genetic defects, methods of lowering blood pressure that prevent the development of the disease are very effective.
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