Gnpat does not play an essential role in systemic iron homeostasis in murine model.

ABSTRACT: The GNPAT variant rs11558492 (p.D519G) was identified as a novel genetic factor that modifies the iron-overload phenotype in homozygous carriers of the HFE p.C282Y variant. However, the reported effects of the GNPAT p.D519G variant vary among study populations. Here, we investigated the role of GNPAT in iron metabolism using Gnpat-knockout (Gnpat^-/- ), Gnpat/Hfe double-knockout (Gnpat^-/- Hfe^-/- or DKO) mice and hepatocyte-specific Gnpat-knockout mice (Gnpat^fl/fl ;Alb-Cre). Our analysis revealed no significant difference between wild-type (Gnpat^+/+ ) and Gnpat^-/- mice, between Hfe^-/- and DKO mice, or between Gnpat^fl/fl and Gnpat^fl/fl ;Alb-Cre with respect to serum iron and tissue iron. In addi

SUBMITTER: An P 

PROVIDER: S-EPMC7171407 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature