Gene Discovered for Severe Form of Epilepsy
from a press release found at "http://sickkids.on.ca/HSCWeb/HSC/NEWS/Epgene.html"
It was reported in the October 1998 issue of Nature Genetics, the prestigious scientific journal, that a gene responsible for Lafora disease (LD) has been identified by an international research team. The team is led by Dr. Steve Scherer of the Genetics and Genomic Biology program and the Centre for Applied Genomics at the Hospital for Sick Children (HSC) and Assistant Professor of Molecular and Medical Genetics at the University of Toronto.
After 50 years of investigation, biochemists suspected that problems with carbohydrate metabolism in the brain caused Lafora disease. However, the fundamental defect triggering the malfunction was unknown. Identifying the LD gene may give researchers a key to determine the cause of the seizures.
The LD gene produces a signalling protein which is thought to be involved in the brain's breakdown of carbohydrates. The defective gene interferes with this process, leading to an accumulation of abnormal sugar molecules which likely lead to the destruction of the brain's nerve cells. (Accumulations of apparently the same composition are also found in normal aged brains with no obvious consequence.) Similar signalling molecules have been associated with forms of cancer, but this is the first description of such a protein causing a neurological disease.
This discovery opens entire new areas of research into both epilepsy and normal brain function. Identifying the LD gene and understanding the basic genetic defect may enable scientists to discover the mechanisms underlying the severe epilepsy in this disorder, to develop accurate genetic diagnostic tools, and even to correct the disease by gene therapy or other therapeutic treatments.
The Centre for Applied Genomics was established at HSC in July 1998 to conduct research focused on DNA sequencing and chromosome mapping, disease gene discovery, and bioinformatics. This research was supported by grants from the Medical Research Council of Canada and the Hospital for Sick Children Foundation.
For more information, contact Liz Leake at liz.leake@sickkids.on.ca or 416-813-5046.
|
