Gene mutations behind inherited heart disease
In a study of more than 5, 000 people, scientists have found the crucial genetic mutations that cause a common heart condition called dilated cardiomyopathy (DCM).
Researchers sequenced the gene encoding the muscle protein “titin”, known to be linked to this leading cause of inherited heart failure, to try to find which variations in it caused problems.
“These results give us a detailed understanding of the molecular basis for dilated cardiomyopathy,” said Stuart Cook, a professor at Imperial College London who led the study.
The discovery paves the way for more accurate diagnosis and screening of high-risk patients.
“We can use this information to screen patients’ relatives to identify those at risk of developing the disease, and help them to manage their condition early.”
DCM is thought to affect around one in 250 people. It causes the heart muscle to become thin and weak and often leads to heart failure.
