Evidence of a new hereditary joint disorder

h the affected family members and unaffected relatives MM1's parents and 4 siblings for single nucleotide polymorphisms (SNPs) in the chromosome 2 region which are known to influence bone and cartilage development. Two SNPs were identified in all 4 affected family members. Yet, because the same SNPs were also present in MM1's unaffected mother and 2 of 4 of his unaffected siblings, their role in the condition was inconclusive.

The researchers also analyzed radiographic and arthroscopic findings in all 4 of the affected family members. Radiographs showed degenerative changes in the hips of all affected. Of particular interest, however, was the unusual arthroscopic evidence.

In all 4 of the affected family members, researchers observed excessive tissue fluid and large loose bodies. What's more, they found something common, and bizarre, about the nature of each subject's cartilage: its vulnerability to "bubbling" and peeling off in layers to expose bone, at a very early age. In OA, cartilage--the body's natural shock absorber--gradually erodes from the toll of inflammation. The increased stress on the bones often leads to joint damage. In this novel syndrome, cartilage de-bonds and strips away at a radical rate, leaving bones completely unprotected and joints exceptionally susceptible to shattering.

"Further studies elucidating the mechanisms leading to the delamination of cartilage from bone in this family," notes Dr. Moskowitz, Senior Study Investigator, "may provide insights into cartilage-bone interaction in other forms of joint degeneration."


Contact: Amy Molnar
John Wiley & Sons, Inc.

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