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Drinking alcohol during pregnancy produces changes in protein glycosylation, a process in which a shield of sugars or carbohydrates is added to proteins to make them more stable.

These alterations do not appear in newborns who do not suffer fetal alcohol syndrome (FAS), even though their mothers ingested alcohol during the prenatal period, which evidences the necessary interaction between gene and environment.

The research group of the University of Murcia 'Haemostasis and Thrombosis', belonging to the Network of Rare Diseases (CIBERER), has proven that there is a genetic predisposition that aggravates the damage caused by the intake of alcohol during pregnancy.

In the work, published in the North American journal Pediatric Research, 74 genes related to protein glycosylation were sequenced in 45 children and adolescents who were exposed to alcohol during embryonic development, of which 25 developed SAF, a syndrome of prenatal influence which can present with severe symptoms through physical deformities, intellectual disability, language problems and learning.

"The patients analyzed were children and adults, we compared the results and both had the same pattern, but the children had psychomotor disability and the adults did not, we sequenced the genome and in children with APS we found glycosylation disorders, a hereditary disease caused by mutations in several genes that control the glycosylation process, "says Javier Corral, director of the research.

This work has shown for the first time that a mutation does not always have to be pathogenic, evidencing that it is necessary to combine it with an environmental factor, in this case, alcohol. "It is important when this combination of factors occurs. , since fetal alcohol syndrome can appear in embryonic development, but in the adult stage it can manifest itself in another way, in this case, through a thrombosis, "explains María Eugenia de la Morena, a postdoctoral researcher integrated in the Hemostasia group and Thrombosis.

In the project, which has been the subject of an editorial comment in the scientific publication, other research groups have collaborated closely, such as the Medical Genetics and Dysmorphology of the Virgen de la Arrixaca Hospital, directed by Encarna Guillén;

Clinical Genetics of Vall d'Hebron Hospital;

Research on Childhood and Environment, Hospital Clinico de Barcelona, ​​and Dysmorphology and Teratology at the University of California San Diego.

Source: Universidad de Murcia