Summary
This study characterised loss-of-function variants in the human serotonin 2C receptor (HTR2C), demonstrating their association with severe obesity and maladaptive behaviour. The authors propose that melanocortin receptor agonists may offer therapeutic benefit for individuals carrying these variants and recommend HTR2C inclusion in diagnostic gene panels for severe childhood-onset obesity.
Regional applicability
Whilst conducted internationally, these findings are relevant to United Kingdom clinical practice and genetic screening protocols for severe childhood-onset obesity. The pharmacological recommendations would apply to UK paediatric obesity management if HTR2C screening is adopted into diagnostic pathways.
Key measures
HTR2C gene variants; obesity phenotype; behavioural outcomes; response to melanocortin receptor agonists
Outcomes reported
The study identified human loss-of-function variants in the HTR2C gene associated with obesity and maladaptive behaviour. The findings suggest potential therapeutic targets for treating severe obesity in individuals carrying these genetic variants.
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