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 Single-stranded DNA and RNA origami go live
15.12.2017 | Wyss Institute for Biologically Inspired Engineering at Harvard

nachricht New antbird species discovered in Peru by LSU ornithologists
15.12.2017 | Louisiana State 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: Error-free into the Quantum Computer Age

A study carried out by an international team of researchers and published in the journal Physical Review X shows that ion-trap technologies available today are suitable for building large-scale quantum computers. The scientists introduce trapped-ion quantum error correction protocols that detect and correct processing errors.

In order to reach their full potential, today’s quantum computer prototypes have to meet specific criteria: First, they have to be made bigger, which means...

Im Focus: Search for planets with Carmenes successful

German and Spanish researchers plan, build and use modern spectrograph

Since 2016, German and Spanish researchers, among them scientists from the University of Göttingen, have been hunting for exoplanets with the “Carmenes”...

Im Focus: First-of-its-kind chemical oscillator offers new level of molecular control

DNA molecules that follow specific instructions could offer more precise molecular control of synthetic chemical systems, a discovery that opens the door for engineers to create molecular machines with new and complex behaviors.

Researchers have created chemical amplifiers and a chemical oscillator using a systematic method that has the potential to embed sophisticated circuit...

Im Focus: Long-lived storage of a photonic qubit for worldwide teleportation

MPQ scientists achieve long storage times for photonic quantum bits which break the lower bound for direct teleportation in a global quantum network.

Concerning the development of quantum memories for the realization of global quantum networks, scientists of the Quantum Dynamics Division led by Professor...

Im Focus: Electromagnetic water cloak eliminates drag and wake

Detailed calculations show water cloaks are feasible with today's technology

Researchers have developed a water cloaking concept based on electromagnetic forces that could eliminate an object's wake, greatly reducing its drag while...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

AKL’18: The opportunities and challenges of digitalization in the laser industry

07.12.2017 | Event News

 
Latest News

Single-photon detector can count to 4

18.12.2017 | Information Technology

Quantum memory with record-breaking capacity based on laser-cooled atoms

18.12.2017 | Physics and Astronomy

How much soil goes down the drain -- New data on soil lost due to water

18.12.2017 | Agricultural and Forestry Science

VideoLinks
B2B-VideoLinks
More VideoLinks >>>