The
Cardiomyopathy
Association

Scientists have been looking in depth at abnormalities in the actin genes that are linked to both hypertrophic and dilated cardiomyopathy.

As the most abundant protein in the body, actin helps in vital processes including muscle movement.

The study at the University of Guelph in Ontario, Canada examined the gene abnormalities and their role in heart failure. Researchers say their discoveries point to new ways of treating heart disease.

"In order to cure heart disease, you have to understand its fundamental properties," said study author John Dawson, a molecular and cellular biology professor. "So we looked at variants of naturally occurring proteins that are found in people with heart disease."

Scientists had already linked hypertrophic and dilated cardiomyopathy to 14 actin gene abnormalities.

"But this is the first time that many of these variants have been studied at the molecular level," Professor Dawson added.

The researchers inserted human genes into insect cells to make heart muscle proteins for study. They then mapped where the abnormalities occurred and their effects. Three were in spots that resulted in problems with heart contractions; three others were in locations that affected heart stability and efficiency.

Professor Dawson hopes their work will help in developing more targeted treatments.

He said: "Heart disease has many different forms and variants. If we can design specific therapies that address the precise mechanisms of the things going on - treat the root cause rather than the whole system - then we can improve the quality of life for people.”

Professor Dawson belongs to a growing cardiovascular research group at the University of Guelph, one of few such groups worldwide studying cardiovascular disease from single molecules to animal models.

The study was reported in PLoS ONE, a peer-reviewed international journal published by the Public Library of Science.