X-linked hypophosphataemia per se is a rare disease though it is most common form of heritable rickets.

[Rickets is a condition in which in which soft bones bend and deform as a result of poor calcification of growing bones.

Researchers at McGill University and the Federal University of Sao Paulo have identified that osteopontin plays a role in X-liked hypophosphataemia, a discovery may pave the way to effectively treating this rare disease.

The results of this latest research by Drs. McKee and Barros will be published in the March issue of the Journal of Bone and Mineral Research.

It was known from previous research that a mutation in PHEX gene was responsible for the X-linked hypophosphataemia. PHEX enzymatic activity leads to an essentially complete degradation of osteopontin in bones.

[PHEX gene regulates the expression of Phosphate-regulating neutral endopeptidase also known as X-linked hypophosphatemia protein (HYP) or metalloendopeptidase. The gene is located on the X chromosome.] [Read more...]