Long QT syndrome—revealed

March 13, 2018 by Bill Snyder, Vanderbilt University

Long QT syndrome is a rare disorder that can lead to dangerous heart rhythms, fainting and sudden cardiac arrest.

Inherited and potentially lethal forms of the disorder affect the structure and function of the KCNQ1 potassium channel, which transmits electrical signals crucial for maintaining regular heart rhythm.

Now Charles Sanders, Ph.D., and colleagues have used sophisticated cell biological and structural techniques, including NMR spectroscopy, to "classify" mutations according to how structural abnormalities affect and function.

Their findings, reported in the journal Science Advances, could lead to personalized treatment of long QT syndrome in cases where the specific genetic variation underlying loss of function can be determined.

Mutation-induced destabilization of appears to be the most common mechanism for channel defects causing long QT syndrome, the researchers concluded.

This work also showed that five mutations causing defective folding of the KCNQ1 protein were found in the S0 segment of the voltage sensor domain, highlighting the importance of this previously little-noticed segment in channel .

Explore further: Genetic heart diseases cause fewer SIDS deaths than previously thought, study finds

More information: Hui Huang et al. Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations, Science Advances (2018). DOI: 10.1126/sciadv.aar2631

Related Stories

Genetic heart diseases cause fewer SIDS deaths than previously thought, study finds

March 12, 2018
Genetic mutations linked to heart disease have been considered a leading cause of sudden infant death syndrome, but a new study by Mayo Clinic, British and Danish researchers finds they are to blame for far fewer SIDS deaths ...

Understanding and treating long QT syndrome

January 4, 2018
DEAR MAYO CLINIC: I recently read that long QT syndrome is quite common. What is it, and how is it diagnosed? I have read that fainting may be one sign of the disorder. Can long QT syndrome be treated?

Research opens opportunities to develop targeted drug therapy for cardiac arrhythmia

December 23, 2014
In an orchestra, each instrument plays an important role in creating a beautiful piece of music. If just one instrument falls out of rhythm, a world-class symphony could sound more like a middle-school orchestra practice.

Researchers connect molecular function to high blood pressure, diseases

March 1, 2017
By changing one small portion of a stimulus that influences part of one molecule's function, engineers and researchers at Washington University in St. Louis have opened the door for more insight into how the molecule is associated ...

Recommended for you

Psychiatric disorders share an underlying genetic basis

June 21, 2018
Psychiatric disorders such as schizophrenia and bipolar disorder often run in families. In a new international collaboration, researchers explored the genetic connections between these and other disorders of the brain at ...

Deep data dive helps predict cerebral palsy

June 21, 2018
When University of Delaware molecular biologist Adam Marsh was studying the DNA of worms living in Antarctica's frigid seas to understand how the organisms managed to survive—and thrive—in the extremely harsh polar environment, ...

Genetic variation in progesterone receptor tied to prematurity risk, study finds

June 21, 2018
Humans have unexpectedly high genetic variation in the receptor for a key pregnancy-maintaining hormone, according to research led by scientists at the Stanford University School of Medicine. The finding may help explain ...

Shared genetics may shape treatment options for certain brain disorders

June 20, 2018
Symptoms of schizophrenia and bipolar disorder, including psychosis, depression and manic behavior, have both shared and distinguishing genetic factors, an international consortium led by researchers from Vanderbilt University ...

Scientists unravel DNA code behind rare neurologic disease

June 20, 2018
Scientists conducting one of the largest full DNA analyses of a rare disease have identified a gene mutation associated with a perplexing brain condition that blinds and paralyzes patients.

Simple sugar delays neurodegeneration caused by enzyme deficiency

June 20, 2018
A new therapeutic approach may one day delay neurodegeneration typical of a disease called mucopolysaccharidoses IIIB (MPS IIIB). Neurodegeneration in this condition results from the abnormal accumulation of essential cellular ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.