New mutation behind heart failure identified

April 13, 2018, Karolinska Institutet
Credit: CC0 Public Domain

An international research team involving Karolinska Institutet has identified a new mutation in South Asians that, in combination with a known mutation in the same gene, increases the risk of cardiomyopathy and heart failure. The finding, published in the scientific journal JAMA Cardiology, can lead to improved treatment options for a large number of patients.

Four per cent of South Asians, around 100 million individuals, carry a deletion in a gene called MYBPC3. This deletion is known to be associated with an increased risk for cardiomyopathy and heart failure, but to varying degrees. An international team of researchers therefore aimed to find out if there are additional genetic variants that account for this risk variability.

By analysing a South Asian population in the US, they found that 10 per cent of the people carrying the MYBPC3 deletion had an additional MYBPC3 mutation. This combination of was linked to clinical findings that increase the risk of heart disease. The results have important implications for personalised healthcare and precision medicine.

10 million people

"Our results indicate that around 10 million people worldwide carry the newly found mutation and that it most likely drives the initially described phenotype observed in patients with a MYBPC3 deletion. This subpopulation of patients are expected to benefit from new, tailored drugs focusing on mutations in the MYBPC3 gene," says Ralph Knöll, adjunct professor at the Karolinska Institutet/AstraZeneca Integrated Cardio Metabolic Centre (ICMC) at Karolinska Institutet's Department of Medicine, Huddinge.

Explore further: Genetic variant might be a better marker for heart disease

More information: Shiv Kumar Viswanathan et al. Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants, JAMA Cardiology (2018). DOI: 10.1001/jamacardio.2018.0618

Related Stories

Genetic variant might be a better marker for heart disease

April 11, 2018
Researchers at the University of Cincinnati (UC) College of Medicine have found that a newly identified subset of a known genetic variant found primarily in individuals of South Asian descent may be a better marker for carriers ...

Genetics should inform care in noncompaction cardiomyopathy

February 14, 2018
(HealthDay)—Genetic stratification should play a role in clinical care of patients with noncompaction cardiomyopathy (NCCM), according to a study published in the Feb. 20 issue of the Journal of the American College of ...

Identifying genetic variant early helps in treating hypertrophic cardiomyopathy in South Asians

November 15, 2016
Early screening for a genetic variant that predisposes people of South Asian descent to hypertrophic cardiomyopathy (an enlarged heart) could help reduce the incidence of sudden cardiac death in this population, says a University ...

Family members without inherited mutation have increased risk of melanoma

December 8, 2017
In families who carry certain inherited mutations that increase the risk for melanoma, members who do not carry the mutation also have an increased risk of melanoma, a study from Karolinska Institutet published in Genetics ...

Genetic link to IBS identified in women

April 5, 2018
New research coordinated by Karolinska Institutet in Sweden links certain DNA variants to increased risk of irritable bowel syndrome (IBS) in women. The findings, published in the scientific journal Gastroenterology, might ...

Risk of heart failure up for rheumatoid arthritis patients

March 14, 2017
(HealthDay)—Patients with rheumatoid arthritis (RA) have increased risk of heart failure, according to a study published in the March 14 issue of the Journal of the American College of Cardiology.

Recommended for you

Physical activity necessary to maintain heart-healthy lifestyle

September 24, 2018
Exercise and physical activity are of vast global importance to prevent and control the increasing problem of heart disease and stroke, according to a review paper published today in the Journal of the American College of ...

Height may be risk factor for varicose veins, study finds

September 24, 2018
The taller you are, the more likely you are to develop varicose veins, according to a study led by Stanford University School of Medicine researchers that examined the genes of more than 400,000 people in search of clues ...

Prosthetic valve mismatches common in transcatheter valve replacement, ups risk of death

September 24, 2018
In the largest multi-institutional study to date, led by researchers from Penn Medicine, the team found that among patients who underwent a transcatheter aortic valve replacement (TAVR), a high number experienced severe and ...

Study reveals a promising alternative to corticosteroids in acute renal failure treatment

September 21, 2018
A protein produced by the human body appears to be a promising new drug candidate to treat conditions that lead to acute renal failure. This is shown by a study conducted at São Paulo State University (UNESP) in São José ...

Can a common heart condition cause sudden death?

September 20, 2018
About one person out of 500 has a heart condition known as hypertrophic cardiomyopathy (HCM). This condition causes thickening of the heart muscle and results in defects in the heart's electrical system. Under conditions ...

New drugs could reduce risk of heart disease when added to statins

September 20, 2018
New drugs that lower levels of triglycerides (a type of fat) in blood could further reduce the risk of heart attack when added to statins. These new drugs, which are in various stages of development, could also reduce blood ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.