An exceptional scientific discovery has been made in Spain , thanks in part to a researcher from Sassari . The team has discovered three new cases of infantile porphyria, one of the rarest known forms . The participant in the effort, a native of Sassari, is Francesco Urigo , a graduate in Biological Sciences and Experimental and Applied Biology. Since 2021, he has been pursuing specialization at the universities of Regensburg, Cagliari, and now Navarra, Pamplona, where he is a doctoral student in applied medicine at Cima, the Spanish biomedical research center. It is precisely in this context that the 31-year-old contributed to the outcome of a study that could provide a key contribution to understanding the disease.

Porphyria is a group of rare metabolic diseases caused by abnormalities in the production of heme, a molecule crucial for oxygen transport in the blood. It has long been referred to as the "vampire disease" because sufferers are sensitive to light exposure and, in the worst cases, the gums tend to recede, making the teeth much more prominent. Symptoms can be neurological, psychiatric, and skin-related, or a combination of these, with sometimes disabling consequences for those affected.

For Francesco, his professional philosophy, drawn from his favorite book, The Count of Monte Cristo, is "transforming adversity into knowledge and knowledge into freedom." This is precisely what was done in Navarra, because what scientists have discovered represents an extraordinary result. In fact, until now, only 10 cases of Ala-dehydratase deficiency porphyria had been identified, and among those discovered in Spain, this is the first ever confirmed in a child. For the researchers, the discovery will lead to a better understanding, they maintain, "of the genetic and environmental mechanisms underlying this ultra-rare form of porphyria, as well as its possible link to heavy metal toxicity." Essentially, "the study described that in some adult patients with severe lead poisoning, the clinical symptoms were similar to those of infantile porphyria, suggesting an interesting overlap or confusion between exposure to metals and the genetic disease." These findings could prove crucial because they have identified "variants of the responsible gene with different expression and biochemical behavior." This indicates significant molecular heterogeneity in the disease, and could help explain why some people are more susceptible to the toxic effects of lead or other environmental factors."

The study was conducted by a team led by Antonio Fontanellas Romá, leader of the "Hepatology: Porphyrias and Carcinogenesis" research group and Principal Investigator; Matías Ávila Zaragozá, director/co-director of the group and active collaborator in the animal model and RNA therapy projects; Pedro Berraondo López, member of the research group, co-author/co-leader in several studies on therapies and experimental models; and Francesco Urigo, researcher in training; Ana Sampedro Pascual, laboratory technician in the "Hepatology: Porphyrias and Carcinogenesis" group; and Daniel Jericó Asenjo, laboratory technician in the group. This work was carried out within the CIBEREHD (Center for Biomedical Research in Networks for Liver and Digestive Diseases) network, in collaboration with the CIBERER (Center for Biomedical Research in Rare Diseases) area. The research was funded by the Carlos III Health Institute and the Fundación Mutua Madrileña.

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