Dog Gene Offers Clues to Rare Human Brain
MONDAY, Aug. 30 (HealthDay News) -- Scientists who discovered a
gene mutation that causes a fatal neurodegenerative disease in
American Staffordshire (Pit Bull) terriers say the same gene may
also be linked to a similar, rare fatal brain disease in
The discovery of the gene associated with a variant of neuronal
ceroid lipofuscinoses (NCLs) -- a family of diseases that lead to
mental and motor deterioration and death -- may lead to improved
screening and diagnosis of the disease in dogs. It may also be an
early first step in developing a cure for NCLs in both dogs and
humans, according to the multinational team of researchers.
In American Staffordshire terriers, also known as American Pit
Bull Terriers, the disease causes mental and motor deterioration
leading to death. Adult-onset NCL affects one of every 400
registered American Staffordshire terriers, according to research
team member Dr. Natasha Olby, an associate professor of neurology
at North Carolina State University.
"The disease became so prevalent because it was a recessive disease with late onset. Carriers of a single copy of the mutated gene never develop symptoms, and dogs with two copies of the gene might not show symptoms until five or six years of age, so the mutation was able to take hold in the breeding population," she explained in a university news release.
Genetic analysis revealed the location of the specific gene and
an entirely new mutation that has not been reported in people.
In humans, NCLs such as Batten disease mostly affect children,
but there is an adult-onset form called Kufs' disease that causes
gradual death of brain neurons, resulting in vision loss, epilepsy,
loss of coordination and dementia, according to the National
Institute of Neurological Disorders and Stroke.
The unique nature of the mutation in dogs means that researchers
can now conduct tests to determine if the same mutation is
responsible for Kufs' disease in humans, according to Olby.
"The canine disease is a good model of the adult human form of the disease. We hope that this discovery will provide insight into the development of this disease," she said.
The study was published in a recent issue of the
Proceedings of the National Academy of Sciences.
For more on NCLs, got to the
National Institute of Neurological Disorders and
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