Deletion of the gene encoding the ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein (UGRP)/glucose-6-phosphatase catalytic subunit-beta results in lowered plasma cholesterol and elevated glucagon

J Biol Chem. 2006 Dec 29;281(52):39982-9. doi: 10.1074/jbc.M605858200. Epub 2006 Oct 5.

Abstract

In liver, glucose-6-phosphatase catalyzes the hydrolysis of glucose-6-phosphate (G6P) to glucose and inorganic phosphate, the final step in the gluconeogenic and glycogenolytic pathways. Mutations in the glucose-6-phosphatase catalytic subunit (G6Pase) give rise to glycogen storage disease (GSD) type 1a, which is characterized in part by hypoglycemia, growth retardation, hypertriglyceridemia, hypercholesterolemia, and hepatic glycogen accumulation. Recently, a novel G6Pase isoform was identified, designated UGRP/G6Pase-beta. The activity of UGRP relative to G6Pase in vitro is disputed, raising the question as to whether G6P is a physiologically important substrate for this protein. To address this issue we have characterized the phenotype of UGRP knock-out mice. G6P hydrolytic activity was decreased by approximately 50% in homogenates of UGRP(-/-) mouse brain relative to wild type tissue, consistent with the ability of UGRP to hydrolyze G6P. In addition, female, but not male, UGRP(-/-) mice exhibit growth retardation as do G6Pase(-/-) mice and patients with GSD type 1a. However, in contrast to G6Pase(-/-) mice and patients with GSD type 1a, UGRP(-/-) mice exhibit no change in hepatic glycogen content, blood glucose, or triglyceride levels. Although UGRP(-/-) mice are not hypoglycemic, female UGRP(-/-) mice have elevated ( approximately 60%) plasma glucagon and reduced ( approximately 20%) plasma cholesterol. We hypothesize that the hyperglucagonemia prevents hypoglycemia and that the hypocholesterolemia is secondary to the hyperglucagonemia. As such, the phenotype of UGRP(-/-) mice is mild, indicating that G6Pase is the major glucose-6-phosphatase of physiological importance for glucose homeostasis in vivo.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Catalytic Domain / genetics*
  • Cholesterol / blood*
  • Down-Regulation / genetics*
  • Female
  • Gene Deletion*
  • Gene Expression Regulation / genetics
  • Glucagon / biosynthesis*
  • Glucose / metabolism
  • Glucose-6-Phosphatase / biosynthesis
  • Glucose-6-Phosphatase / genetics*
  • Glucose-6-Phosphatase / physiology
  • Glycogen Storage Disease Type I / enzymology
  • Glycogen Storage Disease Type I / genetics
  • Homeostasis / genetics
  • Isoenzymes / deficiency
  • Isoenzymes / genetics
  • Isoenzymes / physiology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Protein Subunits / deficiency
  • Protein Subunits / genetics
  • Protein Subunits / physiology
  • Proteins / genetics*
  • Proteins / physiology
  • Secretoglobins
  • Up-Regulation / genetics*

Substances

  • Isoenzymes
  • Protein Subunits
  • Proteins
  • Scgb3a2 protein, mouse
  • Secretoglobins
  • Glucagon
  • Cholesterol
  • Glucose-6-Phosphatase
  • Glucose