Scientists who revealed a DNA 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 humans. The innovation of the gene associated with a variant of neuronal ceroid lipofuscinoses (NCLs) — a family of diseases that lead to mental and motor worsening and death — may lead to improved screening and diagnosis of the disease in dogs. It may also be an early first step in increasing a cure for NCLs in both dogs and humans, according to the global team of researchers.
In American Staffordshire terriers, also known as American Pit Bull Terriers, the disease causes mental and motor decline 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 established 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 change was able to take hold in the breeding population,” she explained in a university news release.
Genetic analysis exposed 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, epiy, loss of coordination and dementia, according to the National Institute of Neurological Disordlepsers and Stroke.
The unique nature of the alteration 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 mature human form of the disease. We hope that this detection will provide insight into the development of this disease,” she said.