Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Sick Kids scientists identify gene for most severe form of adolescent epilepsy

08.09.2003


An international research team led by Drs. Berge Minassian and Stephen Scherer of The Hospital for Sick Children (HSC) and the University of Toronto (U of T) has identified a gene responsible for the most severe form of teenage-onset epilepsy, known as Lafora disease (LD). The discovery is reported in the September issue of the scientific journal Nature Genetics.



"Epilepsy is one of the most common neurological disorders affecting over 40 million people worldwide," said Dr. Berge Minassian, one of the study’s senior authors, an HSC neurologist and scientist, and an assistant professor in the Department of Paediatrics at U of T. "Lafora disease is one form of epilepsy that occurs during early adolescence and is characterized by seizures and progressive neurological degeneration. Death usually occurs within a decade of the first symptoms."

Fifty years of investigation led doctors to suspect that Lafora disease was caused by problems with carbohydrate metabolism in the brain. Beyond this, however, the fundamental defect triggering the malfunction was unknown. In 1998, the HSC team identified the first gene implicated in Lafora disease, called EPM2A.


"While the discovery of the EPM2A gene has led to the development of diagnostics and a better understanding of the fundamental defect causing seizures, it explained the underlying problem for only 50 per cent of LD families," said Dr. Stephen Scherer, the other senior author of the study, an HSC senior scientist, and an associate professor in the Department of Molecular and Medical Genetics at U of T.

"The newly discovered LD gene, named NHLRC1, produces a protein thought to be involved in marking other proteins for destruction in the cell. Our early data suggests that the EPM2A and NHLRC1 genes work together to safeguard neurons against accumulating too many carbohydrates. If either of the genes is missing, the result is epilepsy," added Dr. Scherer. "Importantly, we can now explain Lafora disease in 90 per cent of families, and for the remaining 10 per cent, we think there is a third yet-to-be-identified disease gene."

Technology in the DNA sequencing facility in The Centre for Applied Genomics at HSC allowed the research team to complete the necessary sequencing of patient and family samples more quickly than with earlier studies.

"Our discovery opens a new area of research into not only epilepsy, but also normal brain function. Ultimately, we hope that understanding the basic genetic defect will allow us to discover the basic mechanisms that underlie the severe epilepsy in this disorder, but also to possibly correct the disease by therapeutic treatment," said Elayne Chan, the study’s lead author and a University of Toronto graduate student. Chan is a recipient of an Epilepsy Canada/Canadian Institutes of Health Research doctoral research award.


This research was supported by the Canadian Institutes of Health Research, the Canadian Genetic Diseases Network, Genome Canada through the Ontario Genomics Institute, the Canada Foundation for Innovation, the Ontario Innovation Trust, The Centre for Applied Genomics at The Hospital for Sick Children, and The Hospital for Sick Children Foundation. Dr. Scherer is an Investigator of the Canadian Institutes of Health Research and International Scholar of the Howard Hughes Medical Institute.

The Hospital for Sick Children, affiliated with the University of Toronto, is Canada’s most research-intensive hospital and the largest centre dedicated to improving children’s health in the country. Its mission is to provide the best in family-centred, compassionate care, to lead in scientific and clinical advancement, and to prepare the next generation of leaders in child health. For more information, please visit www.sickkids.ca.




Laura Greer | EurekAlert!
Further information:
http://www.sickkids.ca
http://www.utoronto.ca/

More articles from Health and Medicine:

nachricht New malaria analysis method reveals disease severity in minutes
14.08.2017 | University of British Columbia

nachricht New type of blood cells work as indicators of autoimmunity
14.08.2017 | Instituto de Medicina Molecular

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

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

Im Focus: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

A Map of the Cell’s Power Station

18.08.2017 | Life Sciences

Engineering team images tiny quasicrystals as they form

18.08.2017 | Physics and Astronomy

Researchers printed graphene-like materials with inkjet

18.08.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>