“New disease of the skeleton, the detection of the KI-researchers”
“Researchers at Karolinska institutet have discovered a new and rare bone disease. The unusual skelettsjukdomen was observed for the first time of a dad and a child in a Swedish family.”
“Researchers began to investigate what diagnosis it could move on and have discovered that the disease is caused by a mutation in a gene called MIR140. The gene in turn gives rise to a molecule called micro-RNA, a small RNA molecule that regulates other genes.”
“Now, scientists hope that the results from the study, published in Nature Medicine, will help to be able to explain other unusual diagnoses and an increased understanding of how small regulatory RNA molecules are involved when it comes to the development of congenital diseases.”
