Researchers from Vanderbilt University have announced the discovery of two new genes, which are both associated with heart disorders. Both genes are involved in the coding for calmodulin, a calcium-binding signalling protein, which plays a vital role in intercellular signalling in the heart, as well as other tissues. It has been found that mutations in these genes are linked to early-onset heart rhythm disorders. The findings were published in the scientific journal Circulation, and will help identification of the causes of heart disorders, as well as the development of therapeutic approaches.
Many cases of heart disease, despite scientific advances, still have no genetic relation. The discovery of more genes related to heart disorders suggests an advance in the medical understanding in genetic mutations. The lead researcher, Alfred George Jr., noted that this will help the medical profession to understand the cause of and possible treatments to, unexplained heart disorders. In particular, George referenced cases of infants having repeated cardiac arrests without any family history of heart problems. This would suggest that a genetic mutation is to blame. Using advanced DNA sequencing equipment, the team of researchers scanned the protein-coding regions across the genome in these children, comparing it to their parents, in order to identify the mutations. This technique is called exome sequencing, and is valued by scientists everywhere as a powerful research tool. Out of three genes coding for calmodulin, the infants had mutations in two.
These specific genetic mutations negatively affected the ability for calmodulin to bind calcium. Since calmodulin interacts with a range of proteins which are essential in maintaining a regular heart rhythm, a mutation that would affect the ability of calmodulin to bind calcium will automatically have a dangerous effect on heart health. Further research could help to identify the causes of early onset arrhythmias, particularly in children, and will hopefully lead to more therapies and treatments being developed.