Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers link two more genes to sudden infant death syndrome

22.05.2006
Recent discoveries at Mayo Clinic added two more cardiac genes to the list of potential links to sudden infant death syndrome (SIDS), increasing the possibility that genetic defects of the heart may cause up to 15 percent of SIDS cases. This research will be presented Friday at Heart Rhythm 2006, the 27th Annual Scientific Sessions of the Heart Rhythm Society in Boston.

In the two recent separate studies, researchers examined caveolin-3 (CAV3) and the cardiac ryanodine receptor (RyR2) and found molecular and functional evidence in both to implicate them as SIDS-susceptibility genes. Researchers examined the tissue of 135 unrelated cases of SIDS -- in infants with an average age of 3 months old -- that had been referred to Mayo Clinic’s Sudden Death Genomics Laboratory for molecular autopsy. In each study, two of the 135 cases possessed mutations in either CAV3 or RyR2.

SIDS -- the sudden, unexplained death of an infant under 1 year old -- is estimated to cause 2,500 infant deaths each year. "Combined with our previous discoveries, we now estimate that defects in genes that provide the blueprints for the critical controllers of the heart’s electrical system might have played a key role in more than 300 of those tragedies," says Michael J. Ackerman, M.D., Ph.D., principal investigator of both studies and director of Mayo Clinic’s Long QT Syndrome Clinic and Sudden Death Genomics Laboratory. "We are continuing to expose the causes of SIDS. So far, we have now added six genes to the SIDS most-wanted list."

In 2001, a team of investigators led by Dr. Ackerman identified the first cardiac gene, SCN5A, linked to SIDS. In 2005, a comprehensive search of the five channel genes that cause a potentially lethal heart rhythm syndrome known as long QT syndrome (LQTS) was found in 5 percent to 10 percent of SIDS cases.

In collaboration with Baylor College of Medicine, Mayo’s sudden death investigators chose to examine CAV3 following our recent discovery of CAV3 as a novel LQTS-causing gene. RyR2 was targeted because of its involvement in a distinct genetic heart rhythm disease known as catecholaminergic polymorphic ventricular tachycardia (CPVT).

"For a parent whose infant died suddenly and mysteriously even five years ago, we were essentially unable to provide them with a cause and would often have to tell them, ’We have no idea why your apparently healthy infant did not wake up this morning,’ " Dr. Ackerman says. "Although so much of SIDS remains unexplained, these findings that point to the heart for 10 percent to 15 percent of SIDS provide one place to search for a possible explanation. For families that have lost an infant to SIDS, it would be reasonable for parents to talk with their physician to make sure there is no family history of other unexplained deaths, unexplained fainting episodes, unexplained seizures that might provide clues and prevent more deaths."

Other researchers involved in the CAV3 study were from the University of Wisconsin-Madison and Baylor College of Medicine, Houston. Researchers involved in the RyR2 study were from Columbia University, New York.

Traci Klein | EurekAlert!
Further information:
http://www.mayo.edu
http://www.mayoclinic.com

More articles from Life Sciences:

nachricht Are there sustainable solutions in dealing with dwindling phosphorus resources?
16.10.2017 | Leibniz-Institut für Nutzierbiologie (FBN)

nachricht Strange undertakings: ant queens bury dead to prevent disease
13.10.2017 | Institute of Science and Technology Austria

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

Im Focus: Shrinking the proton again!

Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.

It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...

Im Focus: New nanomaterial can extract hydrogen fuel from seawater

Hybrid material converts more sunlight and can weather seawater's harsh conditions

It's possible to produce hydrogen to power fuel cells by extracting the gas from seawater, but the electricity required to do it makes the process costly. UCF...

Im Focus: Small collisions make big impact on Mercury's thin atmosphere

Mercury, our smallest planetary neighbor, has very little to call an atmosphere, but it does have a strange weather pattern: morning micro-meteor showers.

Recent modeling along with previously published results from NASA's MESSENGER spacecraft -- short for Mercury Surface, Space Environment, Geochemistry and...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

Climate Engineering Conference 2017 Opens in Berlin

10.10.2017 | Event News

Conference Week RRR2017 on Renewable Resources from Wet and Rewetted Peatlands

28.09.2017 | Event News

 
Latest News

A single photon reveals quantum entanglement of 16 million atoms

16.10.2017 | Physics and Astronomy

The melting ice makes the sea around Greenland less saline

16.10.2017 | Earth Sciences

On the generation of solar spicules and Alfvenic waves

16.10.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>