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Aurora magazine

The mechanisms underlying a new genetic disease have been identified

Professor Ela Knapik of Medicine at Vanderbilt University Medical Center led a study on a newly identified genetic syndrome. The syndrome calls CATIFA. The team showed how collagen secretion causes a wide range of symptoms. This will facilitate the diagnosis of the disease and help find possible therapy.

The name CATIFA is the acronym in English of the main symptoms of the syndrome: cleft palate, cataract, dental anomalies, intellectual disability, facial dimorphism, attention deficit hyperactivity disorder. All of these symptoms would be caused by the mutation of a single gene. The anomaly would in fact cause the destruction of collagen, causing all the symptoms listed above in a chain.

To prove the role of the gene, the scientists used a group of zebrafish. Specimens born with a RIC1 mutation showed collagen deficiency and skeletal abnormalities. Instead, children with the corresponding genetic mutation were suffering from pediatric cataract, absent in fish. Nonetheless, a subsequent analysis showed that children also suffered from skeletal anomalies.

According to the study, all these symptoms are related to collagen deficiency. The substance is in fact the main component of the extracellular matrix. When the RIC1 gene is not working properly, collagen is missing and the matrix disintegrates, which causes a broad spectrum of symptoms. This observation could help in the study of other diseases characterized by unrelated symptoms, at least in appearance. Perhaps many of these cases are actually caused by a single genetic anomaly.