Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2^-/- mouse model.

ABSTRACT:

Introduction

Liver Glycogen Storage Disease IX is a rare metabolic disorder of glycogen metabolism caused by deficiency of the phosphorylase kinase enzyme (PhK). Variants in the PHKG2 gene, encoding the liver-specific catalytic γ2 subunit of PhK, are associated with a liver GSD IX subtype known as PHKG2 GSD IX or GSD IX γ2. There is emerging evidence that patients with GSD IX γ2 can develop severe and progressive liver disease, yet research regarding the disease has been minimal to date. Here we characterize the first mouse model of liver GSD IX γ2.

Methods

A Phkg2^-/- mouse model was generated via targeted removal of the Phkg2 gene. Knockout (Phkg2^-/-, KO) and wild type (Phkg2^+/+, WT) mice up to 3 months of age were compared for morphology, P

SUBMITTER: Gibson RA 

PROVIDER: S-EPMC9792075 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature