The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry · 2025
Involvement of the brain orexin system in a familial form of anorexia nervosa.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Verebi Camille, Lebrun Nicolas, Duriez Philibert, Diebold Bertrand, Gaitch Natacha, Gorwood Philip, Ramoz Nicolas, Bienvenu Thierry
Аннотация
BACKGROUND: Anorexia nervosa (AN) is a debilitating eating disorder. To date, very few genes have been identified that predispose to AN.
AIM: An alternative to association studies is the characterisation of ultra-rare variants in familial forms of AN.
METHODS: Here, we use this approach to identify molecular pathways that contribute to the development of AN by analysing one family with two members suffering from AN by trio whole-exome analysis.
RESULTS: We identified an ultra-rare deleterious variant c.199 + 2T > G in the HCRTR1 gene in the two affected females in the family. The in vitro minigene assay confirmed that c.199 + 2T > C resulted in exon 3 skipping, leading to the loss of the start initiation codon.
CONCLUSION: This HCRTR1 gene, known to be involved in the regulation of feeding and physical activity, and already implicated in the reward pathway, may play a predisposing role in AN, at least in familial forms.
CORE TIP: Anorexia nervosa (AN) is a debilitating eating disorder. To date, only a few genes have been identified as predisposing to AN. The HCRTR1 gene is known to be involved in the regulation of feeding and physical activity. The identification of a rare loss-of-function variant in HCRTR1 strongly suggests that the orexin pathway may be involved in the predisposition to anorexia nervosa.
AIM: An alternative to association studies is the characterisation of ultra-rare variants in familial forms of AN.
METHODS: Here, we use this approach to identify molecular pathways that contribute to the development of AN by analysing one family with two members suffering from AN by trio whole-exome analysis.
RESULTS: We identified an ultra-rare deleterious variant c.199 + 2T > G in the HCRTR1 gene in the two affected females in the family. The in vitro minigene assay confirmed that c.199 + 2T > C resulted in exon 3 skipping, leading to the loss of the start initiation codon.
CONCLUSION: This HCRTR1 gene, known to be involved in the regulation of feeding and physical activity, and already implicated in the reward pathway, may play a predisposing role in AN, at least in familial forms.
CORE TIP: Anorexia nervosa (AN) is a debilitating eating disorder. To date, only a few genes have been identified as predisposing to AN. The HCRTR1 gene is known to be involved in the regulation of feeding and physical activity. The identification of a rare loss-of-function variant in HCRTR1 strongly suggests that the orexin pathway may be involved in the predisposition to anorexia nervosa.