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DOI 10.1002/ajmg.b.33018

Медицинская библиотека · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2024

Potential New Expression Biomarkers for Anorexia Nervosa.

Verebi Camille, Lebrun Nicolas, Petit Justine Vily, Viltart Odile, Duriez Philibert, Saint-Pierre Benjamin, Gorwood Philip, Ramoz Nicolas, Bienvenu Thierry

СтатьяПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

Anorexia nervosa (AN) is a psychiatric disorder with an estimated heritability of around 70%. Although the largest meta-analysis of genome-wide association studies on AN identified independent risk-conferring loci for the disorder, the molecular mechanisms underlying the genetic basis of AN remain to be elucidated. To investigate AN, we performed transcriptome profiling in peripheral blood mononuclear cells from 15 AN patients and 15 healthy controls. We validated our mean results in a mouse model of chronic food restriction, which mimics several aspects of AN. In this exploratory study, we identified 673 significantly differentially expressed genes in AN. Among these genes, we identified seven genes previously found to be dysregulated in IPSC-derived neurons from AN individuals and the Vanin-1 (Vnn1) gene, which appears to play an important role in the regulation of several metabolic pathways. We confirmed underexpression of Vnn1, particularly in the liver, in a mouse model of chronic food restriction. These results indicate that quantitative food restriction affects Vnn1 expression, suggesting that this gene may contribute to the anorexic phenotype in the chronic food restriction mouse model as well as in patients with AN. We believe that this report highlights promising candidate genes and gene pathways for AN, and although we did not obtain a significant result in the replication cohort, it identifies Vnn1 as a potential biomarker that may be used as a molecular target to predict and/or to understand AN.

Для цитирования: Verebi Camille, Lebrun Nicolas, Petit Justine Vily, Viltart Odile, Duriez Philibert, Saint-Pierre Benjamin, Gorwood Philip, Ramoz Nicolas, Bienvenu Thierry. Potential New Expression Biomarkers for Anorexia Nervosa.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2024. DOI: 10.1002/ajmg.b.33018.

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