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 Researchers uncover protein-based “cancer signature”
05.12.2016 | Universität Basel

nachricht The Nagoya Protocol Creates Disadvantages for Many Countries when Applied to Microorganisms
05.12.2016 | Leibniz-Institut DSMZ-Deutsche Sammlung von Mikroorganismen und Zellkulturen GmbH

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

Im Focus: Molecules change shape when wet

Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water

In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

IHP presents the fastest silicon-based transistor in the world

05.12.2016 | Power and Electrical Engineering

InLight study: insights into chemical processes using light

05.12.2016 | Materials Sciences

High-precision magnetic field sensing

05.12.2016 | Power and Electrical Engineering

VideoLinks
B2B-VideoLinks
More VideoLinks >>>