A new study has identified new genes associated with heart function and development.
An electrocardiogram (ECG) is used to record heart’s rhythm and electrical activity. It can be used to identify life-threatening heart problems.
ECG often has a strong genetic basis.
In the study, the team compared ECGs and the genetic makeup of almost 200,000 individuals to gain insight into the genetics that underlie heart rhythm.
This was done using large-scale genetic association studies focusing on protein-coding parts of the genome.
The team chose to focus on rare variants that are often missed in large scale population studies, for follow-up.
The finding confirmed previously-known associations between genetic regions and the heart’s electrical signature, but also highlighted rare gene variants found in less than 1% of the population.
In the study, the team focused on one particular protein, ADAMTS6, to investigate further. Very little is currently known about its function.
In a series of experiments in cells, they found that the protein is not secreted as well as a fully functional copy of the gene.
Furthermore, using mouse models, the team showed that carrying only one copy of a poorly functioning gene resulted in a decrease in Connexin 43, the molecule that transmits the electrical signal between adjacent heart cells and is essential for the cells to communicate.
This decrease could cause the subtle changes in heart rhythm seen in the population study.
However, when both copies were not functional, it resulted in complete absence of Connexin 43 and serious problemsin heart development.
The researchers suggest that these findings increase our knowledge of the genes involved in regulation of heart rhythm.
They also suggest that whilst carrying a single rare damaging variant in ADAMTS6 may result in only subtle changes in electrical activity of the heart, carrying two copies could be a cause of congenital heart defects.
Greater knowledge of the genes determining normal heart rhythm will support efforts to develop new drugs to treat abnormal heart rhythms.
The results from the current study are one step towards achieving that goal.
The study is published in Genome Biology.
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News source: St. George’s University of London.
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