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The prestigious magazine Nature Communication published an international study, led byUniversity of Paviawhich finally fixes the Bea’s casea little girl suffering from a genetic disease unique and extraordinarily rare.
Discovering Bea’s case
In 2010, Bea was examined in the Pediatric Clinical Genetics Clinic of the Regina Margherita Children’s Hospital in Turin due to joint swelling. Exams reveal an unusual situation: a series of “calcifications” that are gradually transforming the cartilage into bone. Despite her vivacity and intelligence, Bea soon finds her joints blocked, preventing her from moving her arms and legs. Medical experts are amazed, as no one has ever seen such a case in the whole world. Bea’s family creates a non-profit organization to raise awareness of the disease and her aunt publishes the book “#Light as a feather – Bea’s world” to spread awareness of the disease.
The long search for an answer
After 13 years and hundreds of experiments, an international group of researchers led by Dr. Elisa Giorgio dell’University of Pavia and of IRCCS Mondino Foundation he finally manages to identify the cause of Bea’s illness. Thanks to the collaboration between pediatricians and medical genetics laboratories in various Italian and foreign centres, researchers discover a unique chromosomal mutation never described before. This mutation involves the insertion of a duplicate segment of chromosome 2 into Bea’s X chromosome.
The discovery of the biological mechanism
The chromosomal abnormality found in Bea, called “enhancer adoption,” was shown to activate a gene called ARHGAP36 abnormally in the cartilage. This gene overproduces a protein in cartilage tissue, causing bone to form in inappropriate places. This finding represents entirely new information in the field of bone formation.
Dr. Giorgio underlines the importance of collaboration between research groups with different skills in order to obtain significant scientific results. Furthermore, the research has shown how, over the years, technological progress and the knowledge acquired have contributed to the understanding of rare diseases such as Bea’s.
Future perspectives
Studying Bea’s disease and other rare diseases may lead to the discovery of pathways and mechanisms that may also be implicated in more common diseases. The identification of the ARHGAP36 gene as involved in bone formation opens new research avenues to better understand bone diseases in the general population.
This study represents a major breakthrough in solving one of the most mysterious cases of a rare disease known. The scientists involved are excited to have helped shed light on this unique disease and to have the opportunity to apply the knowledge gained for future developments in the medical field.
Fonte: Nature Communication