Giant step in the ‘genetic architecture’ of anorexia nervosa


It is the most complete genetic report on anorexia nervosa carried out to date, with a group of around 17,000 people


The finding, which suggests a metabolic-psychological approach to this highly lethal disease, opens the door to developing new drugs for its treatment 



Researchers from the Bellvitge Hospital-IDIBELL and CIBEROBN, and the Consortium and international working group on Eating Disorders (GWASAN) and the Psychiatric Genomic Consortium (GWAS-PGC) have identified eight genetic markers in almost 17,000 cases of anorexia nervosa. Fernando Fernández-Aranda and Susana Jiménez-Murcia, of the Psychiatry Service of Bellvitge University Hospital, are part of this far-reaching initiative in which 184 integrated specialists collaborate in more than 154 centers and research institutions around the world.



The analysis, the largest report on genome association conducted on this disease so far, has just been published in the prestigious scientific journal Nature Genetics.



The researchers analyzed the genomes of 16,992 patients with anorexia nervosa and 55,525 of the control group from data collected by the Anorexia Nerviosa Genetics Initiative and the Working Group on Eating Disorders of the Psychiatric Genomics Consortium. The authors identified eight genetic markers associated with this disease and were able to perform a more accurate analysis of the genetic architecture of the disorder. They also found that this pathology has genetic correlations with certain psychiatric disorders, such as obsessive-compulsive disorder and major depressive disorder, as well as physical activity, obesity and other metabolic traits. Thus, Fernández-Aranda points out that “Metabolic dysregulation in patients with anorexia nervosa could be explained even after a therapeutic restoration, as well as the interrelation between extreme weight situations; so from this discovery, it will be necessary to assess the reconceptualization of the pathology as a metabolic-psychiatric disorder”.



The authors conclude that these findings provide additional evidence that anorexia nervosa is a polyhedral disease, in which variables associated with the underlying mental disorder and metabolic factors involved interact.



This study represents a continuation of a consolidated line of research of the Spanish group, in which for more than 10 years is investigating, within the CIBERobn-IDIBELL, extreme weight situations (from Anorexia nervosa to Obesity), from a clinical, biological and cerebral point of view. The results of this promising line have generated, during all this time, numerous research studies and prestigious publications (Nature, 2011 Aug 31, 478 (7367): 97-102, doi: 10.1038 / nature10406, PLoS One. 2012; 7 (8): e43382.doi: 10.1371 / journal.pone.0043382. Epub 2012 Aug 21, Int J Endocrinol 2014, 2014: 857270. doi: 10.1155 / 2014 / 857270. Epub 2014 Apr 22. Eur Eat Disord Rev 2014 Jan; 22 (1): 25-31.doi: 10.1002 / erv.2267.Epub 2013 Nov.12; Eur Eat Disord Rev. 2016 Nov; 24 (6): 510-517.doi: 10.1002 / erv. 2484; Endocrine, 2016 Feb; 51 (2): 256-67, doi: 10.1007 / s12020-015-0684-9, Epub 2015, Jul 22, J Clin Endocrinol Metab, 2015 Sep; 100 (9): E1188-96. doi: 10.1210 / JC.2015-1595, Epub 2015 Jul 14, Mol Psychiatry, 2017 Feb; 22 (2): 192-201, doi: 10.1038 / mp.2016.71, Epub 2016 May 17), thanks to national funding and international (FIS-ISCIII, PERIS / H2020). The conceptualization of the AN, from this point of view, and the analysis of extreme situations of weight may offer clues to a better neurobiological understanding of these disorders and to increase the effectiveness of current treatments.



Anorexia nervosa, the obsession with perfection that can lead to death


Anorexia nervosa is a complex and serious disease with a higher mortality rate than other psychiatric disorders. It is one of the most common Eating Disorders (ED) affecting around 400,000 people in Spain, of which 300,000 are boys and girls between 12 and 24 years old, being the third cause of chronic disease in adolescence. EDs cohabit with obesity/overweight (cases in which childhood obesity is a previous or consequent condition to the eating disorder, after for example a problem of bulimia nervosa and/or binge eating disorder) in more than 35-40% of cases. The presence of both conditions complicates and hinders the prognosis and outcome of treatment.



Anorexia nervosa and bulimia are the most frequent ED in adolescence, while the prevalence of binge eating disorders is higher in adults and similar in both sexes. One in four affected shows resistance to treatment and evolves towards chronicity, while more than 65% have a tendency to relapse. Those affected by ED have other psychiatric conditions associated, such as depression, anxiety or personality disorders. It is the mental illness with the highest mortality due to the physical complications it causes and suicide. 70% of teenagers do not feel comfortable with their bodies and six out of ten girls think they would be happier if they were thinner. Therefore, experts believe that treatment and prevention must aim, in addition to physical recovery, the development of self-esteem, the management of emotions and the creation of a scale of values away from stereotypes.

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