Genome-wide association studies have uncovered more than 500 genetic variants linked to heart function, everything from heart rate to irregular rhythms that can lead to stroke, heart failure or other complications.
Genome-wide association studies have uncovered more than 500 genetic variants linked to heart function, everything from heart rate to irregular rhythms that can lead to stroke, heart failure or other complications. But since most of these variations fall into areas of the genome that don’t encode proteins, exactly how they influence heart function has remained unclear.
By examining heart cells derived from the skin samples of seven family members, researchers at University of California San Diego School of Medicine have now discovered that many of these genetic variations influence heart function because they affect the binding of a protein called NKX2-5.
The study is published September 30, 2019 in Nature Genetics.
NKX2-5 is a transcription factor, meaning it helps turn “on” and “off” genes — in this case, genes involved in heart development. To do this, NKX2-5 must bind to non-coding regions of the genome. That’s where genetic variation comes in.
Read more at: University of California - San Diego
By examining heart cells derived from the skin samples of seven family members, researchers at UC San Diego School of Medicine discovered that many genetic variations known to influence heart function do so because they affect the binding of a protein called NKX2-5. (Photo Credit: UC San Diego Health Sciences)
