Study Progress Update
Our study into the genetic basis of atypical Cushing’s disease in Scotties is now complete. Thank you to all those who participated.
What did we find?
Our study found a genomic variation in Scottish terriers that was associated with increased serum ALP activity. The variation was located on the same chromosome as a gene responsible for inactivation of sex steroids. Genes can be active (expressed) or inactive (not expressed). If genes are overexpressed, their effect can increase. If they are under expressed, their effect is reduced. In Scotties, the sex steroid inactivation gene was under expressed in comparison to other breeds with Cushing’s disease (pituitary dependent hyperadrenocorticism). If you turn down the gene that is responsible for inactivation of sex steroids they can accumulate. Think of it like a double negative in a sentence!
Our research suggests the gene variation seen in Scotties may be linked with “turning off” this sex steroid inactivation gene, leading to increased concentrations of sex steroids. The higher concentration of these sex steroids may explain commonly observed liver and ALP changes seen in Scottish terriers, and suggest that Cushing’s or Cushing’s-like changes have a different underlying cause in Scotties than in other breeds. Further studies will be needed to better understand this genomic variation’s relationship with sex steroid elimination in Scottish terriers.
If you have questions about your participation in the study or about the study results, please contact us:
Ms. Mindy Quigley, Clinical Trials Coordinator
Office Phone: 540-231-1363 | Email: firstname.lastname@example.org
Dr. Kurt Zimmerman, Associate Professor, Pathology and Informatics
Office Phone: 540-231-4621, Option 2 | Email: email@example.com