New skeletal disease found and explained by CMM researchers

New skeletal disease found and explained by CMM researchers

Researchers from the group Rare Diseases have discovered a new and rare skeletal disease. In a study published in the journal Nature Medicine they describe the molecular mechanism of the disease, in which small RNA molecules play a role that has never before been observed in a congenital human disease.

The study’s lead author Giedre Grigelioniene, physician and associate professor, identified the disease causing mutation in a gene called MIR140 together with Fulya Taylan, assistant professor in the same research group. The gene does not give rise to a protein but to a so-called micro-RNA (miR-140), a small RNA molecule that regulates other genes. The identified mutation knocks out a normal function of the micro-RNA, which is replaced by a different function. The mechanism has never before been described involving small RNAs in human congenital disease.

The study was carried out in collaboration with researchers from, among others, Massachusetts General Hospital and Harvard University in Boston and the Massachusetts Institute of Technology.

The study Gain-of-function mutation of microRNA-140 in human skeletal dysplasia was published in the scientific journal Nature Medicine on February 25 2019.

Read more about the study at KI website.


Giedre Grigelioniene and Fulya Taylan. Photo: Rick Guidotti