Genetic Basis Of Dilated Cardiomyopathy Pinpointed

Researchers have identified the titin gene as responsible for hereditary heart enlargement, the most common reason for heart transplants.

AsianScientist (Jan. 27, 2015) – A landmark genetics study offers new hope for patients with dilated cardiomyopathy, a condition in which the heart progressively enlarges, resulting in cardiac failure. This research has been published in Science Translational Medicine.

Dilated cardiomyopathy—the most common reason for a heart transplant—affects 1 in 2,000 Australians and 30 percent of cases are caused by an inherited gene change. Until now, that gene has remained elusive.

A global study of 5,267 patients led by Imperial College London, Harvard Medical School and Singapore’s National Heart Center, has confirmed that truncating-type mutations in specific areas of a heart protein called titin are involved.

“Genetics have an important role in dilated cardiomyopathy but really over the last decade there’s been a real problem in finding the genetic underpinnnings of this disease,” explains University of New South Wales’ Professor Diane Fatkin, one of the authors of the paper.

“After sequencing thousands and thousands of people, (the authors) have confirmed that people with dilated cardiomyopathy are much more likely to have truncating-type mutations than normal people. This has major clinical implications because it means that we can now test for titin mutations in our families in a clinical setting and find answers for one in four people, which is just amazing,” she added.

Though there is presently no treatment to reverse the effects of a titin mutation Fatkin said genetic testing would allow specialists to pinpoint those carrying the gene within affected families and target them for treatment.

“You’re not going to treat your affected patients differently but you will be able to identify people at risk better and potentially start them on normal treatment at an earlier age so that you focus more on prevention,” she said.

“It means that genetic testing is now much more indicated as part of routine patient management for this disease, which it hasn’t been up until now. The bottom line is a lot more patients will get a lot more results.”

The article can be found at: Roberts et al. (2015) Integrated Allelic, Rranscriptional, and Phenomic Dissection of the Cardiac Effects of Titin Truncations in Health and Disease.

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Source: University of New South Wales; Photo: Quinn Dombrowski/Flickr/CC.
Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.

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