Arrhythmia is in the genes scientists have found serious risk factors

(ORDO NEWS) — Researchers have identified 10 new genetic regions associated with Brugada syndrome, an inherited disorder that leads to arrhythmia and sudden death.

For a long time, this genetic disease leading to arrhythmias remained poorly understood. Now scientists have found 10 new gene variations linked to its development.

Brugada syndrome (BrS) is a genetic disease characterized by the development of a life-threatening form of arrhythmia.

In about 20% of cases, rare variants of the gene encoding the synthesis of one of the proteins of the sodium channel of cardiac muscle cells are found.

Until now, many other mutations in this gene that disrupt the synthesis of a protein important for cardiomyocytes were unknown.

To identify new susceptibility genes, the scientists created a large database of nearly 3,000 unrelated individuals with Brugada syndrome from 12 countries, then conducted a genome-wide association analysis and compared the results with 10,000 people without the disease.

The researchers found ten new genetic regions, made up of 21 different genetic markers, associated with the arrhythmia-causing syndrome.

Genetic factors of hereditary arrhythmia

Many of these regions are located on the third chromosome, which contains genes known to code for two sodium channels, SCN5A and SCN10A.

In addition, other genetic regions included several genes encoding cardiac muscle cell transcription factors, suggesting that modulation of these sodium channels through transcription is an important mechanism in Brugada syndrome.

Next, researchers at Northwestern University used the CRSIPR Cas9 gene editing tool to remove one important cardiac microtubule gene MAPRE2 from human cells.

As a result, biologists have discovered that this gene is critical for stabilizing microtubule networks in cardiomyocytes. In the absence of MAPRE2, sodium channels in cardiomyocytes are less active.

According to the authors of the work, the many genetic associations identified by this study indicate that Brugada syndrome has a complex origin.


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