Nav: Home

How natural genetic differences can affect heart health

September 04, 2019

PHILADELPHIA -- The biggest risks for cardiovascular disease are smoking and poor diet. However, different people are more susceptible to heart disease based on very slight differences in their genes, called variants. While there have been many studies that have linked variants to cardiovascular traits, it's unclear whether these variants have functional consequences, like altered gene or protein expression. In a new study from the https://www.jefferson.edu/university/skmc/departments/medicine/divisions/hematology.html">Cardeza Foundation for Hematologic Research at Thomas Jefferson University, researchers have discovered two slight gene variations that may modulate the behavior of platelet cells, and subsequently affect the risk of developing cardiovascular disease.

Normally, when platelets become activated, they stick together and clot wounds to stop bleeding. In disease, platelets can aggregate in response to triggers like unhealthy fats, and contribute to plaque formation in diseases like atherosclerosis. "Platelet numbers and volume are regulated by the expression of certain genes," says Leonard Edelstein, PhD, research assistant professor and senior author of the study. "If there's more of that gene, there are more platelets and a tendency to clot more." CD36 is one such gene that regulates platelet levels and activation.

In the study published in PLOS Genetics on July 25 2019, the researchers, including co-lead authors Namrata Madan, a postdoctoral fellow, and Andrew Ghazi, graduate student, searched for small changes in the genetic code for CD36. The review of data identified 81 changes in the genome, two of which were functional variants, meaning they affected CD36 expression. When they used genetic editing to delete these variants in cells, there was overexpression of CD36. This indicates that the genetic changes the researchers identified could be potential targets in modulating expression of CD36 and by extension platelet function. The researchers are now trying to identify what protein the variants they identified bind to, and the mechanism behind which it can regulate CD36 expression.

The study provides a paradigm for further testing of functional genetic variants and their relation to cardiovascular health. "We are now conducting an even more large-scale study testing 3,500 genetic variants, of which 150 are functional, and we want to investigate how these variants affect platelet function," says Dr. Edelstein. The results could potentially inform screening for genetic risk of cardiovascular disease and help develop targeted therapies.
-end-
The work was supported in part by the National Institute of Health-National Heart Lung and Blood Insitute grant HL128234 (LCE and CAS) and by the Cardeza Institute for Hematologic Research. The authors report no conflict of interest.

Article Reference: Namrata Madan, Andrew R. Ghazi, Xianguo Kong, Edward S. Chen, Chad A. Shaw, Leonard C. Edelstein, "Functionalization of CD36 Cardiovascular Disease and Expression Associated Variants by Interdisciplinary High Throughput Analysis", PLOS Genetics, DOI: 10.1371/journal.pgen.1008287, 2019

Media Contacts: Edyta Zielinska, 215-955-7359, edyta.zielinska@jefferson.edu">edyta.zielinska@jefferson.edu; Karuna Meda, 267-624-4792, karuna.meda@jefferson.edu">karuna.meda@jefferson.edu.

Thomas Jefferson University

Related Cardiovascular Disease Articles:

A talk with your GP may prevent cardiovascular disease
Having a general practitioner (GP) who is trained in motivational interviewing may reduce your risk of getting cardiovascular disease.
Dilemma of COVID-19, aging and cardiovascular disease
Whether individuals should continue to take angiotensin-converting enzyme inhibitors and angiotensin receptor blockers in the context of coronavirus disease 2019 (COVID-19) is discussed in this article.
Air pollution linked to dementia and cardiovascular disease
People continuously exposed to air pollution are at increased risk of dementia, especially if they also suffer from cardiovascular diseases, according to a study at Karolinska Institutet in Sweden published in the journal JAMA Neurology.
New insights into the effect of aging on cardiovascular disease
Aging adults are more likely to have - and die from - cardiovascular disease than their younger counterparts.
Premature death from cardiovascular disease
National data were used to examine changes from 2000 to 2015 in premature death (ages 25 to 64) from cardiovascular disease in the United States.
Ultrasound: The potential power for cardiovascular disease therapy
In the current issue of Cardiovascular Innovations and Applications volume 4, issue 2, pp.
Despite the ACA, millions of Americans with cardiovascular disease still can't get care
Cardiovascular disease (CVD) is the leading cause of death for Americans, yet millions with CVD or cardiovascular risk factors (CVRF) still can't access the care they need, even years after the implementation of the Affordable Care Act (ACA).
Excess weight and body fat cause cardiovascular disease
In the first Mendelian randomization study to look at this, researchers have found evidence that excess weight and body fat cause a range of heart and blood vessel diseases (rather than just being associated with it).
Enzyme may indicate predisposition to cardiovascular disease
Study suggests that people with low levels of PDIA1 in blood plasma may be at high risk of thrombosis; this group also investigated PDIA1's specific interactions in cancer.
Cardiovascular disease in China
This study analyzed data from the Global Burden of Disease Study to look at the rate of cardiovascular disease (CVD) in China along with death and disability from CVD from 1990 to 2016.
More Cardiovascular Disease News and Cardiovascular Disease Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Climate Mindset
In the past few months, human beings have come together to fight a global threat. This hour, TED speakers explore how our response can be the catalyst to fight another global crisis: climate change. Guests include political strategist Tom Rivett-Carnac, diplomat Christiana Figueres, climate justice activist Xiye Bastida, and writer, illustrator, and artist Oliver Jeffers.
Now Playing: Science for the People

#562 Superbug to Bedside
By now we're all good and scared about antibiotic resistance, one of the many things coming to get us all. But there's good news, sort of. News antibiotics are coming out! How do they get tested? What does that kind of a trial look like and how does it happen? Host Bethany Brookeshire talks with Matt McCarthy, author of "Superbugs: The Race to Stop an Epidemic", about the ins and outs of testing a new antibiotic in the hospital.
Now Playing: Radiolab

Speedy Beet
There are few musical moments more well-worn than the first four notes of Beethoven's Fifth Symphony. But in this short, we find out that Beethoven might have made a last-ditch effort to keep his music from ever feeling familiar, to keep pushing his listeners to a kind of psychological limit. Big thanks to our Brooklyn Philharmonic musicians: Deborah Buck and Suzy Perelman on violin, Arash Amini on cello, and Ah Ling Neu on viola. And check out The First Four Notes, Matthew Guerrieri's book on Beethoven's Fifth. Support Radiolab today at Radiolab.org/donate.