Mutation Found Causing Ceroid Lipofuscinosis in English Setters

Researchers have announced that a mutation causing neuronal ceroid lipofuscinosis (NCL) in English...

Researchers have announced that a mutation causing neuronal ceroid lipofuscinosis (NCL) in English Setters has been identified (AJVR, Vol 66, No. 1, January 2005, pp. 67-76).

 

This research, led by Dr. Martin Katz of the Mason Eye Institute at the University of Missouri School of Medicine, Columbia, was part of a grant made by the AKC Canine Health Foundation to study NCL in Tibetan Terriers, and has been sponsored by the Tibetan Terrier Club of America.



NCLs are lysosomal storage disorders that occur in people, a number of dog breeds, and in other animal species. In English Setters the disease is autosomal recessively inherited. NCL is characterized by significant accumulation of lysosomal storage bodies in the cells of many tissues that leads to progressive neurodegeneration and results in severe neurological impairment and premature death. While appearing normal at birth, affected English Setters begin to exhibit symptoms between the ages of 1 and 2 years. Symptoms include seizures, progressive motor and cognitive decline, and visual impairment.



Building on their success with the English Setter disease, Dr. Katz and his team plan to continue their efforts to identify the genetic bases of NCL in Tibetan Terriers and other dog breeds, and also to begin work to develop therapeutic interventions. By using the English Setter mutation as a model, researchers may be able to develop therapies that will not only be beneficial to humans and dogs with the same mutation, but also in the treatment of other forms of NCL that result from mutations in different genes.