Addison’s Disease  Abstract from the CHF website

2. National Human Genome Research Institute (NIH) (Government)        

Active Grant No: 589B:

Identifying Genes Regulating Addison's Disease in the Portuguese Water Dog (PWD)

Disease(s):  Autoimmune Disease

Researcher(s):  Elaine Ostrander, PhD

Breed(s):  Portuguese Water Dog

University of Utah (University)

Active Grant No: 589A:

Identifying Genes Regulating Addison's Disease in the Portuguese Water Dog (PWD)

Disease(s): Autoimmune Disease

Sponsor(s):

   BEACON for Health, Leonberger Health Foundation, Portuguese Water Dog Club of America, Inc., Portuguese Water Dog Foundation, Versatility in Poodles, Inc.

Researcher(s):  K. Gordon Lark, PhD

Breed(s):  Portuguese Water Dog

Abstract:

    Addison’s disease, or primary adrenocortical insufficiency, is characterized by destruction of the adrenal cortex, resulting in the inability to produce cortisone when stimulated with the hormone ACTH. In Portuguese Water Dogs (PWDs), this disease occurs with a frequency of 1-2 percent, and is a heritable autoimmune disease of low penetrance, caused by several interacting genes. Using both new and existing data, we propose to identify regions of the PWD genome that contain genes regulating the frequency of Addison¿s disease. Within those large regions we propose to identify the specific DNA sequence variants that are associated with Addison¿s. To date we have obtained DNA from about 90 Addisonian PWDs, as well as a number of unaffected PWDs, for which no family history of Addison's is reported. We have already identified two genomic regions, on canine chromosomes 12 and 37, that appear to be associated with the disease. To identify candidate genes, we will make selections using the newly available canine genome sequence, as well as the more detailed human genome sequence. Once affected gene disease frequency is identified, our long term hope is that prognostic tests can be developed that will aid breeders in selecting the most genetically compatible dogs for future breeding.

No Update Report for Sponsors available at this time 8/22/0 

1. University of California, Davis (University)

Completed Grant No: 225:

Establishing a Genetic Linkage Between Addison's Disease and DNA Markers

Disease(s):  Autoimmune Disease

Sponsor(s):

    BEACON for Health, Bearded Collie Club of America, Great Dane Club of America, Poodle Club of America Foundation, Portuguese Water Dog Club of America, Inc., Portuguese Water Dog Foundation, Versatility in Poodles, Inc., Westie Foundation of America, Inc.

Researcher(s): Anita M. Oberbauer, PhD

Breed(s):

    Bearded Collie, Great Dane, Leonberger, Miniature Poodle, Portuguese Water Dog, Standard Poodle, West Highland White Terrier

Abstract:

    Addison's disease is a late onset disorder caused by deterioration of the adrenal gland cortex. Although Addison's disease occurs in the general canine population, some breeds show a greater prevalence as noted by owners and breeders: Bearded Collies, Standard Poodles, Leonbergers, Portuguese Water Dogs, and West Highland White Terriers. We have demonstrated that for Standard Poodles and Bearded Collies, Addison's disease is highly heritable. Statistical evaluation of the dogs' pedigrees suggests a single locus of large effect significantly influences the expression of Addison's in the Standard Poodle and that this locus acts as an autosomal recessive. Similar findings characterize Addison's for the Bearded Collie although the level of significance is less robust. The specific objectives of this grant are to expand our pedigree, phenotypic, and DNA databases for all possible Bearded Collies, Standard Poodles, Leonbergers, Portguese Water Dogs and West Highland White Terriers as related to Addison's disease and to continue our genome scan of the DNA to identify a genetic marker linked to the single locus suggested by the pedigree analyses.