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Zheng, Yiran; Rajcsanyi, Luisa Sophie; Kowalczyk, Manuela; Giuranna, Johanna; Herpertz-Dahlmann, Beate; Seitz, Jochen; de Zwaan, Martina; Herzog, Wolfgang; Ehrlich, Stefan; Zipfel, Stephan; Giel, Katrin; Egberts, Karin; Burghardt, Roland; Föcker, Manuel; Al-Lahham, Saad; Hebebrand, Johannes; Fuhrer, Dagmar; Tan, Susanne; Zwanziger, Denise; Peters, Triinu; Hinney, Anke

Lipocalin 2 – mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals

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  • Media type: E-Article
  • Title: Lipocalin 2 – mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals
  • Contributor: Zheng, Yiran; Rajcsanyi, Luisa Sophie; Kowalczyk, Manuela; Giuranna, Johanna; Herpertz-Dahlmann, Beate; Seitz, Jochen; de Zwaan, Martina; Herzog, Wolfgang; Ehrlich, Stefan; Zipfel, Stephan; Giel, Katrin; Egberts, Karin; Burghardt, Roland; Föcker, Manuel; Al-Lahham, Saad; Hebebrand, Johannes; Fuhrer, Dagmar; Tan, Susanne; Zwanziger, Denise; Peters, Triinu; Hinney, Anke
  • Published: Frontiers Media SA, 2023
  • Published in: Frontiers in Endocrinology, 14 (2023)
  • Language: Not determined
  • DOI: 10.3389/fendo.2023.1137308
  • ISSN: 1664-2392
  • Origination:
  • Footnote:
  • Description: ContextThe bone-derived adipokine lipocalin-2 is relevant for body weight regulation by stimulating the leptin-melanocortin pathway.ObjectiveWe aimed to (i) detect variants in the lipocalin-2 gene (LCN2) which are relevant for body weight regulation and/or anorexia nervosa (AN); (ii) describe and characterize the impact of LCN2 and MC4R variants on circulating lipocalin-2 level.MethodsSanger sequencing of the coding region of LCN2 in 284 children and adolescents with severe obesity or 287 patients with anorexia nervosa. In-silico analyses to evaluate functional implications of detected LCN2 variants. TaqMan assays for rare non-synonymous variants (NSVs) in additional independent study groups. Serum levels of lipocalin-2 were measured by ELISA in 35 females with NSVs in either LCN2 or MC4R, and 33 matched controls without NSVs in the two genes.ResultsFourteen LCN2-variants (five NSVs) were detected. LCN2-p.Leu6Pro and p.Gly9Val located in the highly conserved signal peptide region may induce functional consequences. The secondary structure change of lipocalin-2 due to LCN2-p.Val89Ile may decrease solubility and results in a low lipocalin-2 level in a heterozygotes carrier (female recovered from AN). Lean individuals had lower lipocalin-2 levels compared to patients with obesity (p = 0.033).ConclusionLipocalin-2 levels are positively associated with body mass index (BMI). Single LCN2-variants might have a profound effect on lipocalin-2 levels.
  • Access State: Open Access