Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release

The Journal of Clinical Endocrinology and Metabolism
Henrik U IrgensPål R Njølstad

Abstract

The synthesis of glycogen is initiated by glycogenin. In humans, glycogenin-1 is expressed ubiquitously, whereas glycogenin-2 (GN2) is highly expressed in liver. It has therefore been suggested that GN2 is a liver isoform of glycogenin. In a search for possible copy number variations associated with monogenic diabetes, we identified a 102-kb deletion of the X chromosome involving the entire GYG2 gene (encoding GN2) in 2 families. The purpose of this study was to test whether male GYG2 deletion carriers had abnormal glucose metabolism and/or glycogen synthesis. Two families with diabetes and a GYG2 deletion were investigated with medical history and examination, glucagon stimulation tests, and liver biopsies. We identified a GYG2 deletion in 3 members of family 1, 8 members of family 2, and 1 blood donor. The deletion showed no clear cosegregation with diabetes. Deletion carriers reported no symptoms related to fasting. Results of cardiac examination and abdominal ultrasound imaging were normal. A glucagon stimulation test in 4 male deletion carriers showed a mean rise in plasma glucose of 3.6 mmol/L (95% confidence interval, 2.9-4.2) compared with 2.8 mmol/L (95% confidence interval, 2.2-3.4) in control subjects. Liver biopsy s...Continue Reading

Citations

Aug 19, 2015·Molecular Aspects of Medicine·Carola Hedberg-Oldfors, Anders Oldfors
Oct 9, 2016·Journal of Inherited Metabolic Disease·Carola Hedberg-OldforsAnders Oldfors
Oct 20, 2019·The Journal of Clinical Endocrinology and Metabolism·Kittichate VisuttijaiAnders Oldfors
Oct 21, 2016·Bioscience Reports·María M Adeva-AndanyCristina Pazos-García
Nov 17, 2017·Acta Neurologica Scandinavica·C Hedberg-OldforsS Zierz

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