We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
LGC Clinical Diagnostics

Download Mobile App




Area of Noncoding DNA Regulates Activity of Heartbeat Control Protein

By LabMedica International staff writers
Posted on 09 Jun 2014
Print article
Image: Normal ECG/EKG complex with labels (Photo courtesy of Wikimedia Commons).
Image: Normal ECG/EKG complex with labels (Photo courtesy of Wikimedia Commons).
Variants in a stretch of DNA not used by the genome for coding proteins have been linked to changes in the way the heart beats and may be linked to the risk of sudden cardiac death.

In cardiology, the QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle. The QT interval represents electrical depolarization and repolarization of the ventricles. A lengthened QT interval is a marker for the potential of ventricular tachyarrhythmias and a risk factor for sudden death.

Previous studies have associated the gene NOS1AP (nitric oxide synthase 1 adaptor protein) and NOS1AP polymorphisms with the QT interval length. Investigators at Johns Hopkins University (Baltimore, MD, USA) continued research in this area by employing multiple human genetic and molecular genetic assays as well as cellular assays using genetically engineered rat cardiomyocytes to look at the relationship between gene expression and QT interval length.

They reported in the May 22, 2014, online edition of the American Journal of Human Genetics that they were able to identify a functional variant underlying trait association: a noncoding polymorphism that mapped within an enhancer of NOS1AP and affected cardiac function by increasing NOS1AP transcript expression. They further localized NOS1AP to cardiomyocyte intercalated discs (IDs) and demonstrated that overexpression of NOS1AP in cardiomyocytes led to altered cellular electrophysiology.

“Traditionally, geneticists have studied gene variants that cause disease by producing an abnormal protein,” said senior author Dr. Aravinda Chakravarti, professor of medicine, pediatrics, molecular biology, genetics, and biostatistics at the Johns Hopkins University. “We think there will turn out to be many DNA variants that, like this one, cause disease by making too much or too little of a normal protein. The problem is that most of these variants lie outside of genes, in the noncoding DNA that controls how genes are used, so it is hard to tell what genes they are affecting.”

“Hundreds of genome-wide association studies have been done to find genetic variants associated with disease, but this is one of just a handful of follow-up studies to look for the mechanism behind such a variant,” said Dr. Chakravarti. “I think we have shown there is great value in asking why.”

Related Links:

Johns Hopkins University


Gold Member
Fully Automated Cell Density/Viability Analyzer
BioProfile FAST CDV
Antipsychotic TDM AssaysSaladax Antipsychotic Assays
New
Lab Sample Rotator
H5600 Revolver
New
Urine Strips
11 Parameter Urine Strips

Print article

Channels

Clinical Chemistry

view channel
Image: The new saliva-based test for heart failure measures two biomarkers in about 15 minutes (Photo courtesy of Trey Pittman)

POC Saliva Testing Device Predicts Heart Failure in 15 Minutes

Heart failure is a serious condition where the heart muscle is unable to pump sufficient oxygen-rich blood throughout the body. It ranks as a major cause of death globally and is particularly fatal for... Read more

Hematology

view channel
Image: The smartphone technology measures blood hemoglobin levels from a digital photo of the inner eyelid (Photo courtesy of Purdue University)

First-Of-Its-Kind Smartphone Technology Noninvasively Measures Blood Hemoglobin Levels at POC

Blood hemoglobin tests are among the most frequently conducted blood tests, as hemoglobin levels can provide vital insights into various health conditions. However, traditional tests are often underutilized... Read more

Immunology

view channel
Image: Under a microscope, DNA repair is visible as bright green spots (“foci”) in the blue-stained cell DNA. Orange highlights actively growing cancer cells (Photo courtesy of WEHI)

Simple Blood Test Could Detect Drug Resistance in Ovarian Cancer Patients

Every year, hundreds of thousands of women across the world are diagnosed with ovarian and breast cancer. PARP inhibitors (PARPi) therapy has been a major advancement in treating these cancers, particularly... Read more

Microbiology

view channel
Image: HNL Dimer can be a novel and potentially useful clinical tool in antibiotic stewardship in sepsis (Photo courtesy of Shutterstock)

Unique Blood Biomarker Shown to Effectively Monitor Sepsis Treatment

Sepsis remains a growing problem across the world, linked to high rates of mortality and morbidity. Timely and accurate diagnosis, along with effective supportive therapy, is essential in reducing sepsis-related... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.