The map of the genetic variants that put the health of the heart at risk is ready: a new technique has in fact revealed that genetic alterations, particularly in the cells that line the blood vessels, are decisive for coronary diseases, or coronary artery disease, that is, all those alterations load on the arteries that carry blood to the heart, which represent, to date, the leading cause of death.
The study, published in the journal Nature and led by Brigham and Women's Hospital in Boston and Stanford University, lays the foundations for early diagnosis and for designing targeted drugs.
In recent years, hundreds of DNA regions associated with heart attack risk have been identified, but effective methods to understand the biological mechanisms they influence are often lacking, thus hampering efforts to develop effective therapies.
The researchers coordinated by Rajat Gupta of the BWH and Jesse Engreitz of Stanford have therefore developed an innovative technique that allows them to map the relationship between genetic variants and cell functioning: to do this, they sequenced 215,000 cells that line the blood vessels, deleting one at a time 2,300 genes associated with coronary heart disease and studying how these 'deletions' influence the expression of another 20,000 genes in each cell.
The authors of the study thus discovered that 43 of the 306 variants linked to coronary heart disease also play an important role in a rare pathology known as 'cerebral cavernous malformation', which affects the blood vessels of the brain: a coincidence that opens up possible treatments for this too serious disorder.
“It is remarkable that this approach immediately pointed us towards new genes and pathways that had previously escaped attention,” comments Engreitz.
“This technique will be a powerful tool – concludes the researcher – to study many other diseases whose genetic risk factors are still unknown”.
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