After 5 years, the “mystery” of Beatrice, nicknamed the “stone girl”, seems to have been solved.
A tragic case: the little girl, 8 years old, he died in 2018 at the Regina Margherita hospital in Turin, due to the consequences of a very rare disease that had transformed his body into a kind of rigid armor.
Now an international group of researchers, coordinated by Elise George of the University of Pavia, has identified the cause of the terrible pathology.
The study, published in Nature Communication, showed that the cause lies in a specific gene, which produces a protein in much higher quantities than expected, especially in the wrong tissue, namely cartilage.
This very gene would induce the formation of bone tissue where it shouldn’t be present, generating a sort of rigid rind.
(Unioneonline/lf)
© breaking latest news