Features | Partner Sites | Information | LinkXpress
Sign In
BioConferenceLive
JIB
GLOBETECH PUBLISHING

Area of Noncoding DNA Regulates Activity of Heartbeat Control Protein

By BiotechDaily International staff writers
Posted on 09 Jun 2014
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



comments powered by Disqus

Channels

Drug Discovery

view channel
Image: Molecular rendering of the crystal structure of parkin (Photo courtesy of Wikimedia Commons).

Cinnamon Feeding Blocks Development of Parkinson's Disease in Mouse Model

A team of neurological researchers has identified a molecular mechanism by which cinnamon acts to protect neurons from damage caused by Parkinson's disease (PD) in a mouse model of the syndrome.... Read more

Therapeutics

view channel
Image: This type of electronic pacemaker could become obsolete if induction of biological pacemaker cells by gene therapy proves successful (Photo courtesy of Wikimedia Commons).

Gene Therapy Induces Functional Pacemaker Cells in Pig Heart Failure Model

Cardiovascular disease researchers working with a porcine heart failure model have demonstrated the practicality of using gene therapy to replace implanted electronic pacemakers to regulate heartbeat.... Read more

Lab Technologies

view channel
Image: A one-year-old baby sits in a brain scanner, called magnetoencephalography (MEG)—a noninvasive approach to measuring brain activity. The baby listens to speech sounds such as “da” and “ta” played over headphones while researchers record her brain responses (Photo courtesy of the Institute for Learning & Brain Sciences at the University of Washington).

Brain Scanner Shows Infants’ Brains Rehearse Speech Sounds Months Before Their First Words

New research in 7- and 11-month-old infants revealed that speech sounds stimulate brain regions that coordinate and plan motor movements for speech. The new study suggests that babies’ brains begin establishing... Read more

Business

view channel

Cancer Immunotherapy Sector Predicted to Surge to USD 9 Billion Across Major Pharma Through 2022

The immunotherapy market will experience substantial growth through 2022, increasing from USD 1.1 billion in 2012 to nearly USD 9 billion in 2022 (corresponding to 23.8% annual growth) in the United Kingdom, United States, France, Germany, Italy, Spain, and Japan, according to recent market research. This notable growth... Read more
 
Copyright © 2000-2014 Globetech Media. All rights reserved.