OCT 11, 2016 6:32 PM PDT

Loss of "Heart Enhancing" Genes Results in Heart Failure

WRITTEN BY: Kara Marker
A recent study showed that over eighty thousand gene enhancers are associated with human heart development and function. Can the loss of any of these enhancers lead to heart disease? This is what researchers from the Lawrence Berkeley National Laboratory are hoping to find out.
Left: mouse embryo is showing enhancer activity (blue staining) in the developing heart. Right: closeup of this heart showing that the enhancer is active in the left ventricle, left atrium, and right atrium.
As scientists learned more about the human genome through whole-genome sequencing, they soon realized that just five percent of human DNA is actually responsible for the coding of protein sequences, leaving the meaning of the other 95 percent of DNA open for scientific interpretation. 

Previously thought of as “junk DNA,” it soon became clear to geneticists that the 95 percent of non-coding DNA had a truly significant role in the expression of genes. In the present study, published in the journal Nature Communications, researchers connect the expression of genes through enhancers to genetic causes of heart disease, specifically cardiomyopathy. 

"Identifying and interpreting sequence changes affecting non-coding sequences is increasingly a challenge in human genetics, said co-senior author of the recent Department of Energy study, Axel Visel, PhD. “The genome-wide catalog of heart enhancers provided through this study will facilitate the interpretation of human genetic data sets."

First, Visel and the rest of the team completed a comprehensive genome-wide map of more than eighty thousand enhancers that are associated with human heart development and function. Using a technology called chromatin immunoprecipitation sequencing (ChIP-seq) to identify heart enhancers in the genome, they identified two specific enhancers in the genome located near genes associated with human heart disease. Next, they studied these enhancers more closely in mice models.

The researchers compared mice with disabled enhancers with control mice with no mutations, and they saw large changes in gene expression in the disabled mice; the loss of one or the other resulted in symptoms resembling human cardiomyopathy in the mice models. Using echocardiogram images of the mice hearts, they were able to confirm that the mice heart tissue with disabled enhancers had reduced pumping power, consistent with signs of human cardiomyopathy.
 
Lead author Diane Dickel described the nature of studying non-coding DNA like this: “If we took the battery out of a car, it wouldn't start. That's a critical component. A missing or damaged enhancer could be essential like a battery, or more similar to a missing passenger seat in the car. It's not as nice, but it's still possible to drive the car." 

There are many more enhancers to test in similar studies in the future, with any of them having the potential to affect gene expression and the development of heart disease.
 


Sources: Scitable by Nature Education, Department of Energy Lawrence Berkeley National Laboratory
About the Author
  • I am a scientific journalist and enthusiast, especially in the realm of biomedicine. I am passionate about conveying the truth in scientific phenomena and subsequently improving health and public awareness. Sometimes scientific research needs a translator to effectively communicate the scientific jargon present in significant findings. I plan to be that translating communicator, and I hope to decrease the spread of misrepresented scientific phenomena! Check out my science blog: ScienceKara.com.
You May Also Like
JUN 19, 2019
Genetics & Genomics
JUN 19, 2019
Genetic Link to Heart Disease is Stronger Than Thought
Previous work did not look at the impact of small changes in regulatory genes....
JUL 24, 2019
Cardiology
JUL 24, 2019
Eel Inspired Battery May Someday Power Pacemakers
The worlds first synthetic battery called a “voltaic stack” was developed by Alessandro Volta, an Italian scientist in 1799. The incredible bod...
AUG 01, 2019
Cardiology
AUG 01, 2019
Avoiding Sugar In Unexpected Places
Most people are under the false impression that what they eat is healthy. There is such a disconnect between the processed, prepackaged foods we eat today ...
OCT 10, 2019
Cardiology
OCT 10, 2019
Parkinson's Disease is Present in the Blood
Parkinson's disease is a progressive disorder of the nervous system. Often starting with a barely noticeable tremor in one hand, the disease affects a...
OCT 24, 2019
Cardiology
OCT 24, 2019
Protein Build-Up Places Heart at Risk
Amyloidosis is a disease caused by protein buildup in the body. These abnormal proteins, called amyloids, are produced in the bone marrow. Multiple types o...
NOV 18, 2019
Cannabis Sciences
NOV 18, 2019
Frequent Marijuana Use Linked with Stroke and Arrhythmia
Research from two new preliminary studies presented at the American Heart Association’s (AHA) annual Scientific Sessions this week warned of the heal...
Loading Comments...