Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Epilepsy genes may cancel each other

06.11.2007
Inheriting two genetic mutations that can individually cause epilepsy might actually be “seizure-protective,” said Baylor College of Medicine researchers in a report that appears online today in the journal Nature Neuroscience.

“In the genetics of the brain, two wrongs can make a right,” said Dr. Jeffrey L. Noebels, professor of neurology, neuroscience and molecular and human genetics at BCM. “We believe these findings have great significance to clinicians as we move toward relying upon genes to predict neurological disease.”

In addition, the finding might point the way to new ways of treating epilepsy using gene-directed therapy.

“If you have a potassium channel defect, then a drug blocking certain calcium channels might also benefit you,” said Noebels.

... more about:
»Channel »Epilepsy »Genetic »potassium »seizure

Noebels and his colleagues, who included first author Dr. Ed Glasscock, a post-doctoral researcher at BCM, tested this hypothesis by breeding mice with two defective genes that govern ion channels, tiny pores in cells that allow molecules such as potassium and calcium to flow in and out.

The genes were known to cause epilepsy when inherited singly within families. They have also been found in a large-scale screen of people with non-familial seizure disorders being performed in collaboration with the Baylor Human Genome Sequencing Center.

One is a mutation in the Kcna1 gene involved in the channel that allows potassium to flow in and out of the cell. It causes severe seizures affecting the brain’s temporal lobe, an area of the brain involved in processing sight, sound, speech and forming memories. It can also cause sudden death in young mice.

The other mutation is in a calcium channel gene (Cacna1a) that causes a specific type of seizure associated with absence epilepsy. When people suffer these seizures, they may appear to be staring into space and do not exhibit the jerking or movements generally associated with epilepsy.

When both types of mutation occurred in the same young mouse, that animal had dramatically reduced seizures and did not suffer the sudden death associated with the potassium channel problem.

Noebels, who is also director of the Developmental Neurogenetics Laboratory funded by the National Institutes of Health and Blue Bird Circle Foundation, said, “Rather than screening for ‘bad’ genes one at a time, it may be essential to create a complete profile of many or even all genes in order to accurately assess the true genetic risk of any single defect in many common disorders such as epilepsy. Fortunately, this amount of background information will soon become routinely obtainable in individual patients thanks to rapid technological progress in the field of neurogenomics.”

Many different genes can lead to seizure disorders. In some cases, they encode ion channels that adjust the way neurons fire. Previous work indicated that combinations of such genes could make epilepsy worse. However, certain combinations may actually prevent the abnormal patterns of epilepsy, acting as “circuit breakers,” said Noebels.

Graciela Gutierrez | EurekAlert!
Further information:
http://www.bcm.edu
http://www.nature.com/neuro/index.html

Further reports about: Channel Epilepsy Genetic potassium seizure

More articles from Life Sciences:

nachricht Research team of the HAW Hamburg reanimated ancestral microbe from the depth of the earth
01.03.2017 | Hochschule für Angewandte Wissenschaften Hamburg

nachricht Researchers Imitate Molecular Crowding in Cells
01.03.2017 | Universität Basel

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Researchers Imitate Molecular Crowding in Cells

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to simulate these confined natural conditions in artificial vesicles for the first time. As reported in the academic journal Small, the results are offering better insight into the development of nanoreactors and artificial organelles.

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to...

Im Focus: Safe glide at total engine failure with ELA-inside

On January 15, 2009, Chesley B. Sullenberger was celebrated world-wide: after the two engines had failed due to bird strike, he and his flight crew succeeded after a glide flight with an Airbus A320 in ditching on the Hudson River. All 155 people on board were saved.

On January 15, 2009, Chesley B. Sullenberger was celebrated world-wide: after the two engines had failed due to bird strike, he and his flight crew succeeded...

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

A better way to measure the stiffness of cancer cells

01.03.2017 | Health and Medicine

Exploring the mysteries of supercooled water

01.03.2017 | Physics and Astronomy

Research team of the HAW Hamburg reanimated ancestral microbe from the depth of the earth

01.03.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>