Hormonal
Expanding first-level genetic screening for obesity to include POMC and MC3R genes is necessary to maximize diagnostic yield and identify patients with intermediate susceptibility phenotypes who are missed by standard panels.
If you have obesity and standard genetic tests came back negative, ask your doctor about expanded testing for POMC and MC3R genes. This can reveal if you have a specific biological susceptibility that might affect how your body handles energy, potentially guiding more personalized treatment strategies.
Our findings demonstrate that expanding first-level routine testing to include POMC and MC3R is essential to maximize diagnostic yield and improve clinical management.
Why this rating
The study is observational/correlational with bioinformatic predictions; functional validation is explicitly stated as a limitation.
Source
The Necessity of POMC and MC3R Analysis in the First-Level Diagnosis of Monogenic Obesity: The Experience of Two Italian Centers
Kateryna Miedviedieva et al. · Genes · 2026
DOI 10.3390/genes17040405
More from this paper
- Heterozygous variants in the POMC gene (specifically p.Arg90His, p.Ser94Gly, p.Ser94=, and p.Ala195=) are associated with an intermediate obesity phenotype in adults, likely due to haploinsufficiency affecting melanocortin peptide processing.Limited
- The presence of the rare BDNF p.Thr2Ile variant is associated with a suboptimal response to high-dose tirzepatide treatment, resulting in significantly less weight loss compared to clinical trial averages.Weak
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