A genetic mutation protects 350 residents of Yecla against thrombosis

Madrid

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Researchers at the Murcian Institute for Biosanitary Research (IMIB) and the University of Murcia (UMU) have discovered a genetic mutation present in the 1% of the population of Yecla (about 350 residents in this Murcian municipality) which reduces the possibility of suffer thrombotic episodes.

The appearance of this mutation dates back 5,400 years ago. However, through archeogenetics, combined with a study of surnames, researchers have shown that the genetic alteration came to Yecla at the beginning of the XV century with the population migrations after the Reconquest, coming mainly from the French Basque Country, through Aragon.

From left to right, Eugenia de la Morena, Antonia Miñarro, Belén de la Morena and Javier Corral at the Regional Hemodialysis Center.

This work, which starts from the publications in the magazines «Blood», «Haemophilia» and «Medical Hypothesis», has been carried out by researchers from the Clinical-Experimental Oncology group of the IMIB-UMU María Eugenia de la Morena-Barrio, Salam Salloum-Asfar, Antonia Miñano, José Padilla, Carlos Bravo, Belén de la Morena-Barrio, Javier Corral and Vicente Vicente.

In addition, it has had the collaboration of Pablo Carbonell, of the Center for Biochemistry and Clinical Genetics of the Clinical Hospital Virgen de la Arrixaca University (HCUVA), as well as hematologists from the French Basque Country and Barcelona.

Twenty years on the trail

The study, carried out over the last five years, is based on a curious observation by Julio Esteban, a hematologist at the Virgen del Castillo Hospital, located in Yecla. While conducting routine preoperative tests, the doctor noticed an unusual number of patients with abnormalities in blood clotting, mainly associated with type C hemophilia, mild in character.

The search for the cause led him to identify a high incidence in the deficiency ofl Factor XI of coagulation in these patients. “It is a very rare disorder that is associated with a moderate bleeding risk.

Thanks to this clinical study, not only have they shown the moderate bleeding risk associated with this mutation, but it has also served to discover interesting antithrombotic protection.

Thanks to this clinical study, not only have they demonstrated the moderate bleeding risk associated with this mutation, but it has also served to discover interesting protection antithrombotic. «In short, the deficiency of FXI it may be underestimated and represent more advantages than problems, and it may even open up exciting future therapeutic options, “Corral points out.

It had only been found elevating in certain inbred communities, such as the Ashkenazi Jews, where it reached 2% of the population », explains Javier Corral.

From this family study, the Hematology and Clinical-Experimental Oncology group del IMIB-UMU carried out a complete molecular study that confirmed the congenital deficiency of this factor in 220 cases of Yecla. In addition, a high incidence of the genetic disorder was described in 1% of the Yecla population, which represents about 350 residents.

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