Scientists at the Karolinska Institutet Sweden found a new and rare skeletal disease. A study regarding the molecular mechanism of the disease was published in the Nature Medicine on 25 February 2019.
A new skeletal disease, which is a type of human skeletal dysplasia was discovered. Human skeletal dysplasia is a disorder of the development of bone in babies. It is a genetic disorder with skeletal affection.
This new discovery was found by Giedre Grigelioniene, a physician and also the lead author of the study. This new disease was first recognized in a swedish family. During their diagnosis, scientists made this discovery.
The study explains the mechanism of the disease in which small RNA molecules play a part. The molecules observed during the study has never been discovered before in a congenital human disease.
RNA is a molecule required for biological roles in coding, decoding, expression and regulation of genes.
The scientists identified the disease-causing mutation in the gene known as MIR140. The gene gives rise to a micro-RNA (miR-140) and not to a protein. This small RNA modulates other genes.
The mutation identified strikes off the normal function and replaces it with a different function. This mechanism is called the neomorphic. This process has never been explained before consisting of small RNAs in human congenital disease.
Furthermore, researchers at the Massachusetts General Hospital, Harvard Medical School in Boston, USA made a mouse model of the disease. The researchers observed that the animal’s skeletons made the same abnormality similar to that of the patients in the study.
To add further the scientists identified that the found mutation leads to abnormal expression of many important genes in the growth plates and also in the ends of the tubular bones.
Giedre Grigelioniene says, “This causes a change in skeletal growth, deformed joints and the delayed maturation of cartilage cells in the patients, who have short stature, small hands and feet, and joint pain.”
The authors believe that the results obtained are important for patients suffering from this skeletal disease and also for scientists to help understand small RNA molecules and their role in human congenital disease.