The cause of a rare bone disease has been revealed

Scientists at McGill University in Canada have uncovered the cause of a rare genetic skeletal disease called spondyloepiphyseal dysplasia. The results of the study have been published in the journal Nature Communications.

Experts have shown that a defect in a certain gene encoding the MGP protein can cause a disorder affecting the structure of connective tissues. MGP, which is an inhibitor of mineralisation of the extracellular matrix, is found in blood vessels and cartilage, but in its absence, Keitel syndrome develops, in which soft connective tissues begin to calcify.