Researchers from Case Western Reserve University School of Medicine and University Hospitals of Cleveland, and the University of California, San Diego have discovered a new clinical syndrome which they have named hereditary chondrolysis, a rare disabling disease in which the cartilage debonds from bone, leading to severe generalized osteoarthritis. The findings, presented at the 50th Annual Meeting of the Orthopedic Research Society in San Francisco in March, may shed light on cartilage breakdown and forms of osteoarthritis. The researchers uncovered two mutations involving the FRZB (“frisbee”) gene located on chromosome 2, which has been implicated in familial osteoarthritis. In previous laboratory studies done elsewhere, FRZB appears to be important in the development of human limbs at a young age. Although the finding of the mutation in both affected and unaffected family members makes the mutation in and of itself insufficient to cause the clinical syndrome, it may play a role in what could be a polygenic trait.
