Discovering the cause of thrombocytopenia
The ANKRD-26 gene responsible for the lack of platelets, will now be easier to correctly diagnose the disease and choose the most appropriate treatment.
Identified the genetic cause of a rare hereditary disease due to acute shortage of platelets, blood components responsible for the arrest of bleeding: So says a research financed by Telethon and coordinated by Carlo Balduini, Clinica Medica III, director of the Foundation IRCCS Policlinico St. Matthew and professor at the University of Pavia.
Published in the American Journal of Human Genetics, the study saw the participation of various groups historically involved with Telethon in the study of hereditary coagulation defects, including those of Anna Savoia, University of Trieste-IRCCS Burlo Garofolo, Marco Seri ‘s Silverio Perrotta University of Bologna and the Second University of Naples.
“Ten years studying this disease, as observed for the first time in two families, one Italian and one American,” says Balduini. “The greatest difficulty lay in the fact that, unlike in other already known hereditary thrombocytopenia, platelets of these patients have an almost normal appearance. It was therefore very difficult to diagnose, in fact we did not know what to look. This meant that in the past many patients have received treatment not only inappropriate but also dangerous as a massive cortisone therapy or removal of the spleen. ”
The identification of the gene responsible – ANKRD-26 – thus marks a turning point for these patients.
By analyzing the genetic heritage of some 100 Italian families from diagnosis uncertain, Balduini and his group have identified 8 with a defect in the same gene. “It is not over here,” the researcher continued: “since we have identified the gene responsible for this as we are watching is among the most common forms of inherited thrombocytopenia in Italy. We also have cases diagnosed in other countries such as Spain, Argentina and the United States: I am convinced that with time the diagnosis will increase due to the fact of knowing what to look for genetic defects. ”
People suffering from this disease of the blood is apparently healthy, but in case of trauma, accidents, or dental procedures may have a sudden and heavy bleeding, sometimes so dangerous as to endanger its survival. Women are also more at risk when they give birth or even during the monthly menstrual cycle. The ability to accurately classify patients is therefore important to intervene with a targeted drug therapy can prevent bleeding in dangerous situations. In this sense, they hope the recent results – again with funds Telethon – the same team of researchers in patients with another inherited defect of platelets, the MYH9-related disease.
The next step is still clear what the function of the gene ANKRD-26, still little known. Balduini explains: “based on limited data currently available, we hypothesized that this gene functions in patients too much and that this will somehow affect the normal production of platelets: however there is still much to be discovered and it is very important if we want to make develop a specific therapy. ” A curiosity: an indirect confirmation of this hypothesis seems to be none other than the genetic analysis of the “father” of DNA, James Watson, one of the few people in the world that has the entire sequence of letters that make up its assets hereditary. Watson presents only a corrected version of the gene ANKRD-26, while the other is “incomplete” in spite of this alteration, however, has an absolutely normal number of platelets, which would not be expected if the genetic defect would lead to a reduction activity of that gene.
