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Lipocalin 2 - mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals
Ist Teil von
Frontiers in endocrinology (Lausanne), 2023-03, Vol.14, p.1137308-1137308
Ort / Verlag
Switzerland: Frontiers Media S.A
Erscheinungsjahr
2023
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
The bone-derived adipokine lipocalin-2 is relevant for body weight regulation by stimulating the leptin-melanocortin pathway.
We aimed to (i) detect variants in the lipocalin-2 gene (
) which are relevant for body weight regulation and/or anorexia nervosa (AN); (ii) describe and characterize the impact of
and
variants on circulating lipocalin-2 level.
Sanger sequencing of the coding region of
in 284 children and adolescents with severe obesity or 287 patients with anorexia nervosa.
analyses to evaluate functional implications of detected
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
or
, and 33 matched controls without NSVs in the two genes.
Fourteen
-variants (five NSVs) were detected.
-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
2-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 (
= 0.033).
Lipocalin-2 levels are positively associated with body mass index (BMI). Single
-variants might have a profound effect on lipocalin-2 levels.