The cause of a rare bone disease has been revealed

In the new work, the scientists demonstrated cases of a specific bone disease due to a small change in the MGP gene. Four people from two unrelated families had MGP variants in which the cysteine 19 residue was changed to phenylalanine or tyrosine.

Experiments showed that a similar condition develops in genetically modified mice with corresponding changes in the gene. In this case, cartilage cells producing the protein experience stress in the endoplasmic network, which leads to their death and skeletal dysplasia.