Terriers help researchers understand pathology of a NCL disease

COLUMBIA, MO. - 11/04/05 - Researchers at the University of Missouri-Columbia are studying the genetics of Tibetan Terriers, a breed known to be affected by neuronal ceroid lipofuscinosis (NCL), a neurologic disease with a human equivalent called Batten disease.

The owned dogs are contributing to a canine DNA bank for research on the currently incurable, fatal disease.

Dr. Martin Katz, DVM, MD, says he believes terriers can help researchers better understand the pathology of the disease and find a treatment for both species.

NCL diseases are inherited, making the purebred terriers ideal since the genes can be traced back many generations.

The normal canine genome, which has been sequenced, is compared to the DNA of the affected and unaffected Tibetan Terriers to pinpoint the NCL mutation in this breed, researchers say.

Katz was able to eliminate mutations in known NCL genes as the cause of the Tibetan Terrier disease.

The next step is the identification of the NCL mutation in Tibetan Terriers. This now requires that the mutant gene be located through a mapping or linkage analysis. The analysis involves a comparison of the DNA from a large number of affected dogs with the DNA of their parents and affected littermates, authorities say.

Once the NCL mutation in Tibetan Terriers has been identified, a blood test for the mutation can be performed. This will enable veterinarians to screen dogs prior to giving a clean bill of health for breeding; preventing additional affected dogs in the future. Identification of the Tibetan Terrier NCL mutation also will make it possible to determine whether humans with NCL have the mutations in the corresponding human gene.

The American Kennel Club Canine Health Foundation, the Batten Disease Support and Research Association, and Research to Prevent Blindness, Inc. has funded Katz's research.