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An international study, with the participation of Spanish researchers, identified a dozen genes that contribute to Attention Deficit Hyperactivity Disorder (ADHD) and they developed the first genetic map of this pathology. In the work published by the journal "Nature Genetics", more than 80 authors from 60 research centers participated, among which researchers from the University of Barcelona (UB), Vall Hospital & 39; Hebron, Mutua Terrassa Hospital and the Institute. of the global health of Barcelona (ISGlobal).
The research has analyzed nearly 10 million genome positions in more than 50,000 people from different countries in Europe, the United States, Canada, and China. After this analysis, which is the first genomic scale global study on ADHD, researchers have identified twelve specific DNA fragments related to susceptibility to this disease, which is one of the disorders most common psychiatric conditions in children and adolescents. about 5% of children and 2.5% of adults.
ADHD is characterized by attention deficit, hyperactivity and impulsive behavior, and limits the personal and social skills of those affected. From unknown origin until then, everything indicates that ADHD results from the combination of environmental factors (toxicological, psychosocial, etc.) and a polygenic hereditary basis (which would account for about 75% of the disorder ).
The work, conducted by Harvard and New York Universities (USA) and Aarhus (Denmark), was devoted to studying the role played by common genetic variants in the general population. . The study found that common genetic variants "account for 21% of total ADHD genetic genes," according to Bru Cormand, head of the neurogenetics research group at UB's School of Biology.
In addition, he added, most of the identified genetic alterations occur in highly conserved genome regions throughout the evolution, indicating their functional relevance. " Specifically, the research identified twelve genomic segments, ten of which correspond to specific genes, conferring susceptibility to ADHD, and revealed that many of the genetic modifications associated with this disorder affect regulatory elements of gene expression in the body. brain.
Among the identified fragments, the FOXP2 gene, one of the most studied in relation to language development in humans, encodes a protein that plays an important role in the formation of neuronal synapses and learning. FOXP2 had already been identified as a candidate gene for ADHD in a 2012 study involving several Spanish authors who took up this new book and is now one of the few genes cited in the scientific literature that reappeared in this new map. of ADHD.
Another identified gene, DUSP6, is involved in the control of dopaminergic neurotransmission, the target process of the most common pharmacologic treatments for ADHD. A third gene, SEMA6D, which is expressed in the brain during embryonic development, may also play an important role in the formation of neuronal branches. The international study also examined the genetic potential shared between ADHD and over 200 characters, psychiatric and non-psychiatric.
According to Cormand, "the results reveal genetic overlaps between ADHD and major depression, anorexia, educational level, obesity, reproductive success, smoking or smoking. ;insomnia". According to Cormand, "this study reinforces, against some negationist voices, the idea that ADHD is a solid biological-based disorder in which genetics has a lot to say."
The Catalan researcher stressed "the importance of promoting large-scale studies that are only possible through large international consortia in order to explore the genetic basis of complex brain diseases".
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