International study into cardiomyopathy gene mutations

25th July 2016

Data from an international study into gene mutations causing cardiomyopathy has been published for the first time.

SHaRe (the Sarcomeric Human Cardiomyopathy Registry) was set up in 2014 to collect and analyse data on thousands of cases of hypertrophic and dilated cardiomyopathy to improve understanding of the diseases and help produce better treatments. Hospitals from around the globe, including Britain, are taking part.

In a press release this week, the biopharmaceutical company MyoKardia, which supports the registry, says the article on SHaRE in the Proceedings of the National Academy of Sciences of the USA demonstrates the power of combining clinical, genetic and structural data to gain insight into hypertrophic cardiomyopathy (HCM).

The disease can result from any one of hundreds of different genetic variants in human β-cardiac myosin, which causes muscle contraction in the heart. However, it has been difficult for researchers to correlate the location of genetic variants with the severity of disease. This registry compares genetic variants in myosin from patients with HCM and the general population.

In the course of the study, regions of the myosin protein with disease-causing alterations were identified.

Dr James Spudich, a co-author of the study and professor of cardiovascular disease in the department of biochemistry at Stanford University in America, said: “These data represent another step in gaining a deeper understanding of the genetic basis of a debilitating disease that affects about one in 500 people.”

It is hoped the research will pave the way for more targeted and effective approaches to treating the disease.

The published research represents the collaboration of scientists from MyoKardia, Stanford University, Brigham and Women’s Hospital and others.

For more about SHaRE, see here