[ SHOWGSD-L ] New Epilepsy Gene Located in Dogs
- From: Stormy Hope <stormy435@xxxxxxxxx>
- To: Da List <showgsd-l@xxxxxxxxxxxxx>
- Date: Sat, 24 Mar 2012 09:26:13 -0700
http://www.sciencedaily.com/releases/2012/03/120323205337.htmScience
News
... from universities, journals, and other research organizations
New Epilepsy Gene Located in Dogs
ScienceDaily (Mar. 23, 2012) — A new epilepsy gene for idiopathic
epilepsy in Belgian Shepherds has been found in the canine chromosome
37. The research of Professor Hannes Lohi and his group conducted at
the University of Helsinki and the Folkhälsan Research Center opens
new avenues for the understanding of the genetic background of the
most common canine epilepsies. The research also has an impact on the
understanding of common epilepsies in humans.
The research is published in the scientific journal PLoS ONE on March
23, 2012.
Epilepsy affects about 1-5% of the human population at some stage of
live, and it includes a host of syndromes the age of onset, causes and
prognosis of which vary significantly. Based on their basic mechanisms
epilepsy syndromes are divided into genetic (idiopathic) epilepsies,
structural / metabolic (symptomatic) epilepsies and epilepsies of
unknown cause. Symptomatic causes refer to discernible external or
structural change, whereas with idiopathic epilepsy there is a strong
genetic background. A common denominator between the different
syndromes are reoccurring epileptic seizures, which are divided
according to an international classification into two main groups --
focal and generalized seizures -- based on clinical symptoms and
research findings. About two thirds of the seizures in adults are
focal in nature and one third generalized. In children and teenagers
the occurrence of generalized forms of epilepsy is greater (ca. 50%).
Identification of the epilepsy gene on process
Genetic factors are estimated to play a role in the development of
epilepsy in as many as 40% of epilepsy patients. Several genes
affecting the development of symptomatic epilepsies have already been
identified, but the genetic background of multifactorial idiopathic
epilepsies often remain unknown. Both focal and generalized idiopathic
epilepsies occur in Belgian Shepherds. The research group of Professor
Hannes Lohi, working in collaboration with Danish, Swedish and
American researchers in an EU-funded project, has made a major
breakthrough by identifying a chromosome region associated with the
most common form of epilepsy in dogs. By comparing the genome of dogs
with epilepsy and healthy control dogs a gene region in chromosome 37
was discovered, which if homozygous, increases the risk of epilepsy
seven-fold. In addition the research findings indicate that other,
still unknown, genetic risk factors may be present in the breed.
The identified region has excellent neurological candidate genes for
epilepsy and ongoing follow-up research is aimed to identify the
specific gene causing epilepsy. Epilepsy genes have not previously
been identified in this chromosome region, so the discovery will
reveal an entirely new epilepsy gene in dogs and possibly also in
humans. The type of epilepsy occurring in Belgian Shepherds is
extremely common in also other breeds and thus the discovery may have
an impact on the understanding of the epilepsies in different dog
breeds.
"There are only few genes in the identified region and I believe that
the ongoing analyses will help us to discover the specific epilepsy
gene," says Professor Hannes Lohi who led the research. "This would
give us a better understanding of the disease mechanisms and provide
us with new diagnostic tools for the disease."
The Research group of Hannes Lohi has begun an extensive gene-
sequencing project in which the entire identified chromosome region
will be 'read through' with a next-generation sequencing method. By
identifying the specific gene mutation an individual's epilepsy risk
could be assessed, although the gene mutation may also be common in
dogs that never become symptomatic of epilepsy.
Epilepsy is common among Belgian Shepherds
"The identified genomic region is likely to be the strongest single
risk factor for epilepsy in Belgian Shepherds, and we are studying an
interesting gene variant causing an amino acid change in the protein
level. However, this homozygous amino acid change is also present in
one fifth of healthy Belgian Shepherds. The research continues in the
breed and aims to identify the specific mutation for genetic testing
in this loci and possible in other chromosomes. The need for the gene
test is urgent since as much as 20% of the dogs in this breed are
estimated to have epilepsy," comments the first author of the article
Eija Seppälä, PhD.
The age of onset of idiopathic epilepsy in Belgian Shepherds is on
average 3 years, although the range varies greatly. A seizure often
begins as a focal seizure, and the owner may observe abnormal
movement, usually on only one side of the dog's body. At this point
the dog often seeks out the owner, drools or vomits. With most Belgian
Shepherds the seizure becomes generalized and is accompanied with loss
of consciousness and irregular cramping in the limbs. The dog may also
urinate or defecate involuntarily.
Earlier gene discoveries of the research group
Epilepsy is the most common disorder of the nervous system in dogs and
different types of genetic epilepsies occur in dozens of dog breeds.
The research group has previously identified the first epilepsy gene
for symptomatic epilepsy, EPM2B, in Miniature Wirehaired Dachshunds,
as well as more recently a gene, LGI2, associated with transient
idiopathic epilepsy in Lagotto Romagnolos. The group has also
participated in the discovery of a gene for symptomatic epilepsy in
Tibetan Terriers. Lohi and his research group have built a canine DNA
bank in Finland, which currently holds almost 40 000 samples from more
than 250 different breeds. The DNA bank has played a major role in the
execution of among others the current research to be published in
March,
2012.============================================================================
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