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 Study shows novel protein plays role in bacterial vaginosis
13.12.2019 | University of Arizona Health Sciences

nachricht Illinois team develops first of a kind in-vitro 3D neural tissue model
12.12.2019 | University of Illinois College of Engineering

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: Virus multiplication in 3D

Vaccinia viruses serve as a vaccine against human smallpox and as the basis of new cancer therapies. Two studies now provide fascinating insights into their unusual propagation strategy at the atomic level.

For viruses to multiply, they usually need the support of the cells they infect. In many cases, only in their host’s nucleus can they find the machines,...

Im Focus: Cheers! Maxwell's electromagnetism extended to smaller scales

More than one hundred and fifty years have passed since the publication of James Clerk Maxwell's "A Dynamical Theory of the Electromagnetic Field" (1865). What would our lives be without this publication?

It is difficult to imagine, as this treatise revolutionized our fundamental understanding of electric fields, magnetic fields, and light. The twenty original...

Im Focus: Highly charged ion paves the way towards new physics

In a joint experimental and theoretical work performed at the Heidelberg Max Planck Institute for Nuclear Physics, an international team of physicists detected for the first time an orbital crossing in the highly charged ion Pr⁹⁺. Optical spectra were recorded employing an electron beam ion trap and analysed with the aid of atomic structure calculations. A proposed nHz-wide transition has been identified and its energy was determined with high precision. Theory predicts a very high sensitivity to new physics and extremely low susceptibility to external perturbations for this “clock line” making it a unique candidate for proposed precision studies.

Laser spectroscopy of neutral atoms and singly charged ions has reached astonishing precision by merit of a chain of technological advances during the past...

Im Focus: Ultrafast stimulated emission microscopy of single nanocrystals in Science

The ability to investigate the dynamics of single particle at the nano-scale and femtosecond level remained an unfathomed dream for years. It was not until the dawn of the 21st century that nanotechnology and femtoscience gradually merged together and the first ultrafast microscopy of individual quantum dots (QDs) and molecules was accomplished.

Ultrafast microscopy studies entirely rely on detecting nanoparticles or single molecules with luminescence techniques, which require efficient emitters to...

Im Focus: How to induce magnetism in graphene

Graphene, a two-dimensional structure made of carbon, is a material with excellent mechanical, electronic and optical properties. However, it did not seem suitable for magnetic applications. Together with international partners, Empa researchers have now succeeded in synthesizing a unique nanographene predicted in the 1970s, which conclusively demonstrates that carbon in very specific forms has magnetic properties that could permit future spintronic applications. The results have just been published in the renowned journal Nature Nanotechnology.

Depending on the shape and orientation of their edges, graphene nanostructures (also known as nanographenes) can have very different properties – for example,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

The Future of Work

03.12.2019 | Event News

First International Conference on Agrophotovoltaics in August 2020

15.11.2019 | Event News

Laser Symposium on Electromobility in Aachen: trends for the mobility revolution

15.11.2019 | Event News

 
Latest News

Supporting structures of wind turbines contribute to wind farm blockage effect

13.12.2019 | Physics and Astronomy

Chinese team makes nanoscopy breakthrough

13.12.2019 | Physics and Astronomy

Tiny quantum sensors watch materials transform under pressure

13.12.2019 | Materials Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>