An international group of researchers, coordinated by Elisa Giorgio of the University of Pavia, has identified the cause of the illness of Beatrice, an 8-year-old girl who died in February 2018 at the Regina Margherita hospital in Turin, due to the consequences of the very rare disease that it had transformed his body into rigid armor.
The study, published in Nature Communication, demonstrated that a specific gene produces a protein in much higher quantities than expected, but above all in the wrong tissue, cartilage.
This very gene induces the formation of bone tissue where it should not be present.
The little girl's illness bore many similarities to FOP, fibrodysplasia ossificans Progressive, a rare genetic disorder in which muscle and soft tissue are gradually replaced by bone.
The pathology is caused by a mutation in the Acvr1 gene, responsible for the information necessary to form bone tissue in the various skeletal districts.
When this gene is mutated, it sends an abnormal signal to various tissues which progressively calcify and turn into bone.
However, the little girl's disease had presented itself in the first weeks of her life with a very rapid and disabling evolution.
Genetic analyzes had also immediately ruled out this disease.