Finding Genetic Mutations Associated with Endocrine Disease

About 20% of older horses, ponies and donkeys of all breeds are affected by pituitary pars intermedia dysfunction, also referred to as equine Cushing’s disease. PPID is a neurodegenerative disease which results in the overproduction of hormones from a section of the pituitary gland known as pars intermedia. PPID is difficult to diagnose, especially in its early stages. Clinical signs include muscle loss, change in behavior, recurrent infections and laminitis which can seriously impact quality of life and even lead to euthanasia in severe cases. Researchers will identify genetic mutations in a variety of related genes that contribute to an increased risk for PPID development in horses. In earlier studies, the team identified more than 250 genetic mutations that may contribute to PPID. In this study, researchers will validate the effects of these mutations in a larger group of horses. Identification of potential disease-causing mutations will inform the development of genetic tests to better screen and diagnose affected horses. The ultimate goal is to initiate treatment earlier before the devastating consequences of PPID impact the patient.