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Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment.

ABSTRACT: BACKGROUND:Anorexia nervosa is a multifactorial eating disorder that manifests with self-starvation, extreme anxiety, hyperactivity, and amenorrhea. Long-term effects include organ failure, disability, and in extreme cases, even death. METHODS:Through a literature search, here we summarize what is known about the molecular etiology of anorexia nervosa and propose genetic testing for this condition. RESULTS:Anorexia nervosa often has a familial background and shows strong heritability. Various genetic studies along with genome-wide association studies have identified several genetic loci involved in molecular pathways that might lead to anorexia. CONCLUSION:Anorexia nervosa is an eating disorder with a strong genetic component that contributes to its etiology. Various genetic approaches might help in the molecular diagnosis of this disease and in devising novel therapeutic options.

SUBMITTER: Paolacci S

PROVIDER: S-EPMC7336737 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment.

Paolacci Stefano S Kiani Aysha Karim AK Manara Elena E Beccari Tommaso T Ceccarini Maria Rachele MR Stuppia Liborio L Chiurazzi Pietro P Dalla Ragione Laura L Bertelli Matteo M

Molecular genetics & genomic medicine 20200505 7

<h4>Background</h4>Anorexia nervosa is a multifactorial eating disorder that manifests with self-starvation, extreme anxiety, hyperactivity, and amenorrhea. Long-term effects include organ failure, disability, and in extreme cases, even death.<h4>Methods</h4>Through a literature search, here we summarize what is known about the molecular etiology of anorexia nervosa and propose genetic testing for this condition.<h4>Results</h4>Anorexia nervosa often has a familial background and shows strong he ...[more]

PMID: 32368866

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Project description:Epigenetic alterations are increasingly implicated in the pathophysiology of anorexia nervosa (AN) but are as yet poorly understood. We investigated possible associations between the leptin gene (LEP) and the leptin receptor gene (LEPR) DNA promoter methylation and (1) a diagnosis of AN and (2) outcome after a 10 months psychotherapeutic outpatient treatment. 129 (LEPR: n = 135) patients with AN were investigated during the large scale psychotherapeutic Anorexia Nervosa Treatment Outpatient Study (ANTOP) trial, compared to 117 (LEPR: n = 119) age and height matched, normal-weight healthy controls. Blood samples were taken at baseline, the end of therapy (40 weeks) and the 12-months follow-up and compared to controls. Methylation was measured in whole blood via bisulfite sequencing. Within the promoter region 32 (LEP) and 39 CpG sites (LEPR) were analyzed. Two key findings were observed. First, LEP and LEPR methylation at baseline were lower in patients compared to controls (LEP: [%] AN: 30.94 ± 13.2 vs. controls: 34.53 ± 14.6); LEPR ([%] AN: 3.73 ± 5.4 vs. controls: 5.22 ± 8.3, mixed linear models: both P < 0.001). Second, lower DNA methylation of the LEP promoter, with a dynamic upregulation during treatment, was associated with a full recovery in AN patients (% change from baseline to follow-up in full recovery patients: +35.13% (SD: 47.56); mixed linear model: P < 0.0001). To test for potential predictive properties of mean LEP DNA methylation a LEP DNA methylation cut-off (31.25% DNA methylation) was calculated, which significantly discriminated full recovery vs. full syndrome AN patients. This cut-off was then tested in a group of previously unclassified patients (missing follow-up data of the Structured Interview for Anorexic and Bulimic disorders; n = 33). Patients below the cut-off (31.25% LEP DNA methylation) showed an increase in BMI over time, while those above the cut-off had a decrease in BMI (ANOVA at the 12-months follow-up: P = 0.0142). To our knowledge, this is the first study investigating epigenetic alterations in AN over time. Our findings indicate that LEP DNA methylation might be involved in the disease course of AN.

Project description:BackgroundAdmissions to intensive treatment (i.e., inpatient [IP] and/or day patient [DP]) for individuals with severe anorexia nervosa (AN) are common. Growing literature indicates potential risks and benefits of each intensive treatment approach; however, existing research has focused on patient and carer perspectives of these treatments. Also, there is scant empirical evidence available for guiding the parameters of intensive treatments for AN. We therefore explored clinicians' perspectives and experience of supporting adults with severe AN in intensive settings.MethodsWe conducted twenty one semi-structured interviews with clinicians who deliver intensive treatments (i.e., IP and/or DP) for individuals with severe AN across four specialist Eating Disorder Services in the United Kingdom between May 2020 and June 2021. We asked clinicians about their views and experiences of supporting individuals with severe AN in intensive treatment settings and the challenges and opportunities associated with IP and DP treatment. Data were analysed using reflexive thematic analysis supported by NVivo software.ResultsFive broad and interrelated themes were identified: (1) Intensive Support; (2) The Severity of Patients' Illnesses; (3) Hope and Recovery; (4) Which Treatment When; (5) Limited Resources; and (6) Carer Burden. We identified various similarities between the two intensive treatment approaches, including the value of intensive and multidisciplinary support and carer involvement, and the challenge of managing complex and unique needs in resource-limited intensive settings. We also found differences in the relationship of treatment to patients' home environments, the necessity of patient motivation, and the management of risk.ConclusionsBoth intensive treatment settings are valued by clinicians; however, there are unique challenges and opportunities for supporting individuals with severe AN within each. Our findings suggest DP treatment may be used as an alternative to IP treatment for individuals with severe AN. However, clear questions remain over which intensive treatment setting is best suited to which patient when and should be the focus of future research.

Dataset Information

Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment.

Publications

Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment.

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