Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers discover genetic glitch in the heart’s electrical system

02.05.2005


Mayo Clinic researchers have identified defects in a second gene called RyR2 that causes malfunctions in the heart’s electrical system and contributes to what were previously unexplained drownings.



Mayo researchers first discovered defects in a gene that causes the heart’s electrical system to malfunction and described how it might cause a drowning of an otherwise healthy person and reported their findings in a study published in the New England Journal of Medicine in 1999. The newest findings are described in the current issue of Mayo Clinic Proceedings.

In the newest study, Mayo researchers conducted sleuthlike molecular autopsies or postmortem genetic testing on coroners’ cases of unexplained and unexpected drownings that were referred to the Sudden Death Genomics Laboratory at Mayo Clinic in Rochester, Minn.


"Harnessing the power from the Human Genome Project, our research team has solved these inexplicable tragedies through direct genetic evidence," says Michael Ackerman, M.D., Ph.D., director of the Sudden Death Genomics Laboratory at Mayo Clinic in Rochester. "Swimming and genetic glitches in the heart’s electrical system appear to be a bad combination, but we need further study to understand why and how this occurs."

In the Mayo Clinic Proceedings article, two cases were studied by Mayo Clinic researchers in which both individuals were proficient swimmers. A teenage girl died at swim team practice, after being found floating facedown in the swimming pool. She had just finished swimming four laps. Efforts to resuscitate her were unsuccessful. Another case involved a young boy who failed to surface immediately after diving in the water at a lake. Efforts to resuscitate him also were unsuccessful.

Akin to the investigators on the television show Crime Scene Investigation, senior research technologist David Tester is one of Dr. Ackerman’s lead sudden death investigators who cracked the code and pinpointed the critical misspelling in the 3 billion base pair genetic code for these drowning victims.

There are approximately 3,000 to 4,000 drowning accidents per year in the United States, and it’s estimated four to six times that many near-drowning incidents, says Dr. Ackerman. The near-drowning accidents contribute to a number of cases where the individuals experience significant brain damage because of the time without oxygen. Most events are explained. For instance, many can be attributed to children being unsupervised, poor swimming ability, alcohol or other drugs or seizures. However, an appreciable number are unexplained.

"On land, if you suffer from one of these genetic glitches that causes your heart to spin electrically out of control and you faint, you might wake up with bruises, but if this occurs in water, even if the heart regains control quickly, it may be too late; you’ve probably drowned," says Dr. Ackerman. "With defects in this gene and the previous gene, swimming becomes a potentially dangerous situation."

The mutations or genetic glitches in RyR2 are undetectable with a regular electrocardiogram (EKG or ECG). The heart rhythm condition resulting from such genetic glitches is called catecholaminergic polymorphic ventricular tachycardia or CPVT and was first described only 10 years ago. Physicians should consider CPVT in the setting of a suspicious faint during exercise or an unexplained drowning or a family history of early sudden deaths where all standard tests are normal, says Dr. Ackerman. CPVT can only be exposed if the suspicion for it is high and the person is run through an exercise or adrenaline stress test.

With respect to summer fun, swimming, and the tragedy of a drowning, Dr. Ackerman urges CSI-like tenacity and scrutiny when a drowning or near-drowning occurs that just does not make sense.

"We estimate that 10 to 20 percent of these kind of drownings are from genetic glitches in the heart’s electrical system," says Dr. Ackerman. "Now we need to prove if that estimate is correct."

To do so, Dr. Ackerman and colleagues are working to establish a national registry of unexplained drownings so systematic sudden death investigations (SDI) can be conducted.

John Murphy | EurekAlert!
Further information:
http://www.mayo.edu

More articles from Life Sciences:

nachricht Link Discovered between Immune System, Brain Structure and Memory
26.04.2017 | Universität Basel

nachricht Researchers develop eco-friendly, 4-in-1 catalyst
25.04.2017 | Brown University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Making lightweight construction suitable for series production

More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.

Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...

Im Focus: Wonder material? Novel nanotube structure strengthens thin films for flexible electronics

Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.

"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...

Im Focus: Deep inside Galaxy M87

The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.

Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...

Im Focus: A Quantum Low Pass for Photons

Physicists in Garching observe novel quantum effect that limits the number of emitted photons.

The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...

Im Focus: Microprocessors based on a layer of just three atoms

Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.

Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Expert meeting “Health Business Connect” will connect international medical technology companies

20.04.2017 | Event News

Wenn der Computer das Gehirn austrickst

18.04.2017 | Event News

7th International Conference on Crystalline Silicon Photovoltaics in Freiburg on April 3-5, 2017

03.04.2017 | Event News

 
Latest News

Scientist invents way to trigger artificial photosynthesis to clean air

26.04.2017 | Materials Sciences

Ammonium nitrogen input increases the synthesis of anticarcinogenic compounds in broccoli

26.04.2017 | Agricultural and Forestry Science

SwRI-led team discovers lull in Mars' giant impact history

26.04.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>