Aggrecan (ACAN), a large chondroitin sulfated proteoglycan, is a major component of articular cartilage found at the growth plate and intervertebral discs. Aggrecan allows joints to move smoothly and without pain. As part of a recent multi-center study, we expanded our previous studies and determined that ACAN mutations are associated with short stature, a spectrum of advanced bone age, with common co-morbidities involving early onset osteoarthritis and degenerative disc disease. Response to GH therapy is being evaluated. Pathogenic mechanism(s) of short stature and osteoarthritis in knock-in mouse models are currently being assessed (collaboration with Noam Levaot, PhD, Ben-Gurion University).

Grant:
Cincinnati Children's Hospital Medical Center-Ben-Gurion University Joint Research Grant Dauber/Hwa/Levaot Duration: 01.01.18 – 12.31.18
Title: Elucidation of the pathogenic mechanisms of dominant Aggrecan mutations underlying short stature and osteoarthritis
Goal: to elucidate pathogenic mechanisms of human ACAN mutations utilizing knock-in mouse models.
Role: Co-PI (multi-PI)

Learn more about the clinical trial: Study for children with aggrecan mutation deficiency (ACAN).

Aggrecan (ACAN) Mutations