New research has disproven the theory that one specific gene is the cause of DMC
New research has revealed that the heart condition Dilated cardiomyopathy (DMC) is caused by several genes rather than faulty copies of one specific gene.
Dilated cardiomyopathy is a heart muscle disease that causes the chambers of the heart to stetch and grow thin, so it cannot effectively pump blood. It is the leading cause of heart failure and cardiac transplantation.
“Understanding the small effects of many genes across the genome also helps us to identify those patients carrying a faulty gene copy at highest risk of developing the disease, said Co-senior author Dr Tom Lumbers of UCL Institute of Health Informatics.
Researchers analysed RNA transcripts to identify multiple cellular states, biological pathways, and intracellular communications that drive the development of the condition.
Alongside this data, researchers analysed the results of 16 previous studies, culminating in over 14,000 DMC sufferers’ genomes and over one million subjects who did not have DMC.
The team identified 80 areas of the genome and 62 specific genes with links to DMC.
A polygenic risk score was developed by the researchers using a dataset of 347,585 people in UK Biobank. The team found that individuals with a rare disease-causing variant were four times more likely to develop disease if their polygenic risk score was in the top 20% compared to those whose risk score was in the lowest 20%.
These findings will assist with the development of genetic testing strategies and targeted therapies.
Diagnostics for general heart health are always being developed and improved, as can be seen with the PocDoc Healthy Heart Test.
