Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

No pores in the war on epilepsy

20.04.2009
A significant form of epilepsy is genetically linked to a non-membrane channel protein

A RIKEN-led research team has gathered strong biological evidence that mutations in the gene EFHC1 trigger the onset of a common form of adolescent epilepsy for which there is currently no explanation. The mutations also increase susceptibility to epileptic seizures.

The gene encodes myoclonin1, a protein found in adults in cilia—the hair-like projections that line the windpipe and the ventricles or cavities in the brain. During development, myoclonin1 is also found in the cells that produce the cerebrospinal fluid in the ventricles.

EFHC1 is one of the few genes known to be directly involved in the onset of epilepsy that does not code for a protein associated with the ion channels or pores in the plasma membrane. The researchers hope their findings can one day be translated into better treatment of juvenile myoclonic epilepsy.

The research group, led by Kazuhiro Yamakawa of RIKEN’s Brain Science Institute in Wako, had previously found an association between EFHC1 mutants and epilepsy. It had also determined the tissues in which myoclonin1 was produced. While work by other groups supported these findings, there was no direct biological or physiological evidence that EFHC1 deficiency caused epilepsy. Details of how the researchers gathered that evidence were recently published in Human Molecular Genetics1.

Initially, the researchers generated Efhc1-deficient mice. These mutant mice appeared normal and were fertile both in the null form where two copies of the Efhc1 gene were defective and in the heterozygous form that carried only one defective copy. As they grew, however, mice of both forms began to display increased levels of the involuntary muscle twitches known as myoclonus, and both began to show increased susceptibility to a chemical known to trigger epileptic seizures.

When the researchers investigated the impact of Efhc1 deficiency on the null form they found enlarged ventricles in the brain and a reduced beating frequency of the cilia—both of which suggested that the onset of epilepsy may have something to do with the circulation of cerebrospinal fluid. But in the heterozygous form, neither of these two abnormalities was apparent, yet the mice showed the same susceptibility to development of epilepsy.

“So we don’t yet have a clear picture of the pathological cascade or mechanism,” says Yamakawa. “But in the knockout mouse we have provided a very important tool to investigate this further. Our next step is to clarify the pathological cascade. That would make a huge contribution to our understanding.”

Reference

1. Suzuki, T., Miyamoto, H., Nakahari, T., Inoue, I., Suemoto, T., Jiang, B., Hirota, Y., Itohara, S., Saido, T.C., Tsumoto, T. et al. Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility. Human Molecular Genetics 18, 1099–1109 (2009).

The corresponding author for this highlight is based at the RIKEN Laboratory for Neurogenetics

Saeko Okada | Research asia research news
Further information:
http://www.rikenresearch.riken.jp/research/688/
http://www.researchsea.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 >>>