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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 developed the first genetic map of this pathology.
The work, published Monday by the journal Nature Genetics, involved more than 80 authors from 60 research centers, including researchers from the University of Barcelona (UB), the Vall Hospital, and more. Hebron, Mutua Terrassa Hospital and the Institute. of the global health of Barcelona (ISGlobal).
The research analyzed near ten 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 identified twelve specific DNA fragments related to susceptibility to this disease, which is one of the most common psychiatric disorders childhood and adolescence and affects approximately 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 involved.
Combination of factors
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. "
In particular, research has identified twelve genomic segments, ten of which correspond to specific genes, which confer susceptibility to ADHD and have discovered that many of the genetic modifications associated with this disorder affect regulatory elements of gene expression in the brain.
Genetic map
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 of the genes identified -DUSP6- is involved in the control of dopaminergic neurotransmission, which is a target process for the most common pharmacological 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 disorder with a solid biological basis, 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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