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MONTREAL, Canada/SAO PAULO, Brazil: Researchers have identified a new protein that plays a key role in the mineralization of bones and teeth. They hope that this discovery will lead eventually to an effective treatment for rickets, a rare bone disease.

According to the researchers, X-linked hypophosphatemia (XLH) is the most common form of heritable rickets. Diagnosed in toddlers, it manifests as soft deformed bones and tooth abscesses owing to insufficiently calcified teeth. Prior studies have demonstrated that XLH is primarily caused by mutation of the zinc metallopeptidase PHEX gene, resulting in phosphate loss in the body, which is important for the mineralization of bone and teeth.

The current study, however, focused on factors other than phosphate that might contribute to XLH and found that PHEX enzymatic activity leads to a complete degradation of osteopontin, a major bone and tooth substrate protein, and prevents the hardening of bones and teeth, the researchers said.

Currently, XLH symptoms can only be partially alleviated using standard phosphate treatment. The researchers thus hope that the findings will help in the development of an enzyme-replacement therapy to treat patients affected by the rare disease.The study was conducted by researchers at the McGill University in Canada and the Federal University of Sao Paulo in Brazil. The results will be published in the March issue of the Journal of Bone and Mineral Research.