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

Obesity linked with higher chance of developing rapid, irregular heart rate

April 18, 2018
People with obesity are more likely to develop a rapid and irregular heart rate, called atrial fibrillation, which can lead to stroke, heart failure and other complications, according to Penn State researchers.

Comparing strategies to guide blood pressure treatment

April 18, 2018
A strategy that examines a patient's overall heart disease and stroke risk to determine blood pressure treatment—rather than blood pressure levels alone—is more effective at preventing events like heart attacks, strokes ...

Using AI to detect heart disease

April 17, 2018
Heart disease is the leading cause of death for both men and women, according to the Centers for Disease Control and Prevention (CDC). In the U.S., one in every four deaths is a result of heart disease, which includes a range ...

Antioxidant therapy may reduce cardiovascular risk of young women with type 1 diabetes

April 17, 2018
The high estrogen levels that typically afford younger women protection from cardiovascular disease appear to instead multiply their risk if they have type 1 diabetes, researchers say.

Regular nut intake linked to lower risk of heart rhythm irregularity (atrial fibrillation)

April 16, 2018
Eating several servings of nuts every week may help lower the risk of developing the heart rhythm irregularity, atrial fibrillation, also known as heart flutter, finds research published online in the journal Heart.

Drinking up to 3 cups of coffee per day may be safe, protective: study

April 16, 2018
Many clinicians advise patients with atrial or ventricular arrhythmias to avoid caffeinated beverages, but recent research has shown that coffee and tea are safe and can reduce the frequency of arrhythmias, according to a ...

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.