NMU – Anorexia Nervosa

NMU is emerging as a candidate gene in the etiopathogenesis of anorexia nervosa. A recent targeted gene sequencing study in an Italian cohort of 135 anorexia nervosa patients identified rare variants in NMU as part of a 163-gene panel (PMID:38112957). Although the study did not detail extensive segregation analyses or family studies, NMU was repeatedly captured in both case report compilations and multi‐patient studies, underscoring its potential relevance. The genetic screening highlights a complex genetic landscape for anorexia nervosa, where NMU and several other candidate genes contribute to the multifactorial basis of the disorder. The limited number of probands with detailed variant characterization, alongside the absence of specific recurrent or founder variants, tempers the overall confidence in the association. Overall, the current evidence points to a tentative link between NMU and anorexia nervosa, suggesting that further independent replication and functional validation are required.

From a functional perspective, while NMU has been implicated in energy homeostasis and appetite regulation, no dedicated functional assessment studies have been provided to firmly establish its mechanism of pathogenicity in anorexia nervosa. The available data do not include in-depth experimental assays, rescue experiments, or animal model validations that would support a clear mechanistic role for NMU alterations. As a result, both the genetic and functional evidence for NMU remain limited and necessitate more rigorous investigation. Despite these constraints, NMU’s identification in candidate gene panels offers a promising avenue for future research that could enhance diagnostic decision‑making and inform commercial genetic testing strategies. The integration of preliminary genetic signals with putative functional roles in appetite regulation establishes NMU as a potential, albeit currently limited, contributor to anorexia nervosa. Key take‑home: NMU represents a promising candidate for further exploration, with its current limited evidence underscoring the need for additional studies to validate its diagnostic and therapeutic utility.

References

• European review for medical and pharmacological sciences • 2023 • Genetic variants identified in novel candidate genes for anorexia nervosa and analysis of molecular pathways for diagnostic applications PMID:38112957

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