Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Search for blood pressure secrets reveals a surprising new syndrome

18.03.2009
Yale researchers investigating the genetic causes of blood pressure variation have identified a previously undescribed syndrome associated with seizures, a lack of coordination, developmental delay and hearing loss.

The findings, published this week in Proceedings of the National Academy of Sciences, illustrate the power of genetic studies not only to find causes of chronic ailments, but also to identify a common cause in a seemingly unrelated set of symptoms in different parts of the body.

"Our ability to unequivocally and rapidly define new syndromes and their underlying disease genes has progressed dramatically in recent years," said Richard Lifton, chair of the Department of Genetics at the Yale School of Medicine and senior author of the study. "A study like this would have taken years in the past, but was accomplished in a few weeks by a single fellow in the lab."

The discovery of the new syndrome was made by Ute Scholl, a post-doctoral fellow in Lifton's lab, who was conducting a genetic analysis of 600 patients for causes of salt-handling defects of the kidney, which lead to high or low blood pressure. She identified a group of five patients from four families in Afghanistan, Turkey, Great Britain and Canada who had, in addition to a salt-handling defect, diverse neurologic problems. The similar clinical features of these patients suggested that all might be caused by a single defect, and in a matter of weeks she found that all five had inherited mutations in the gene KCNJ10, a potassium channel that is expressed in the brain, inner ear and kidney.

Previous studies in mice had implicated this channel in the brain; however the human findings have clearly established its essential role in renal salt handling. In the brain, the mutation apparently interferes with the ability to clear neurotransmitters and potassium from synapses, leading to seizures. The same channel is required for sound transduction in the inner ear. The new findings implicated this channel in maintenance of the activity of the sodium pump in the kidney, the major driver of salt reabsorption.

The authors call this new syndrome SeSAME because of the clinical features of seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance. Lifton said he hopes the research will not only help doctors identify people with the new syndrome but also lead to greater recognition that patients with apparently complicated syndromes may often have simple underlying defects that can be understood.

Bill Hathaway | EurekAlert!
Further information:
http://www.yale.edu

More articles from Life Sciences:

nachricht Symbiotic bacteria: from hitchhiker to beetle bodyguard
28.04.2017 | Johannes Gutenberg-Universität Mainz

nachricht Nose2Brain – Better Therapy for Multiple Sclerosis
28.04.2017 | Fraunhofer-Institut für Grenzflächen- und Bioverfahrenstechnik IGB

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

Fighting drug resistant tuberculosis – InfectoGnostics meets MYCO-NET² partners in Peru

28.04.2017 | 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

 
Latest News

Wireless power can drive tiny electronic devices in the GI tract

28.04.2017 | Medical Engineering

Ice cave in Transylvania yields window into region's past

28.04.2017 | Earth Sciences

Nose2Brain – Better Therapy for Multiple Sclerosis

28.04.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>