A new study has found ten genes that could cause Brugada syndrome in adults. This is a cardiovascular disease that results in death for young adults. The study will help physicians evaluate the risk of their patients developing their disease this finding solutions before patients experience the sudden death that the disease causes. It will also help scientists find targets for their drug studies on Brugada syndrome.
According to a study co-author and a pharmacology professor at Alfred Newton Richards, Dr Alfred George, before this study, scientists had only found two genomes with a link to Brigada syndrome. He adds that these findings could also help scientists carry out a polygenic risk score in individuals.
Brugada syndrome, which is genetic, can lead to a fatal irregularity in a patient’s heartbeat. Scientists who have looked into the disease have found that 20% of patients have a mutation in a gene that regulates the sodium channel of the heart. This sodium channel is responsible for heartbeat regulation.
How researchers conducted the study
To achieve these results, the researchers gathered data from 3000 people with Brugada syndrome. The study participants were unrelated and from 12 countries. Researchers conducted genome analysis and compared their results to 10,000 people who did not have the disease. After the analysis, they found that people with Brugada syndrome had 21 genome markers which the team associated with their disease.
Most of the gene variations were on chromosome 3
The team also found that many of the variations were on chromosome 3. This chromosome has genes that encode SCN10A and SCN5A, which regulate the sodium channel. The other gene variations were on areas that encode transcription factors involved in cardiac development. As a result, the researchers concluded that regulating sodium channels through the transcription factors played a role in the pathology of Brugada syndrome.
During the study, the team also used gene editing to remove MAPRE2. MAPRE2 is a human gene in the cardiac microtubule. The gene plays a role in stabilising the microtubule network in cardiomyocytes, which control the heart’s beating. When this gene is absent from the heart, cardiomyocytes have less active sodium channels.
