Increased atherosclerosis in a mouse model of glycogen storage disease type 1a

Anouk M La Rose; Anouk G Groenen; Benedek Halmos; Venetia Bazioti; Martijn G S Rutten; Kishore A Krishnamurthy; Mirjam H Koster; Niels J Kloosterhuis; Marieke Smit; Rick Havinga; Gilles Mithieux; Fabienne Rajas; Folkert Kuipers; Maaike H Oosterveer; Marit Westerterp

doi:10.1016/j.ymgmr.2022.100872

Increased atherosclerosis in a mouse model of glycogen storage disease type 1a

Mol Genet Metab Rep. 2022 Apr 21:31:100872. doi: 10.1016/j.ymgmr.2022.100872. eCollection 2022 Jun.

Authors

Anouk M La Rose¹, Anouk G Groenen¹, Benedek Halmos¹, Venetia Bazioti¹, Martijn G S Rutten¹, Kishore A Krishnamurthy¹, Mirjam H Koster¹, Niels J Kloosterhuis¹, Marieke Smit¹, Rick Havinga¹, Gilles Mithieux², Fabienne Rajas², Folkert Kuipers^{1

3}, Maaike H Oosterveer¹, Marit Westerterp¹

Affiliations

¹ Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
² Université Claude Bernard Lyon 1, Université de Lyon, INSERM UMR-S1213, Lyon, France.
³ Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

Abstract

Glycogen storage disease type 1a (GSD Ia) is an inborn error of carbohydrate metabolism. Despite severe hyperlipidemia, GSD Ia patients show limited atherogenesis compared to age-and-gender matched controls. Employing a GSD Ia mouse model that resembles the severe hyperlipidemia in patients, we here found increased atherogenesis in GSD Ia. These data provide a rationale for investigating atherogenesis in GSD Ia in a larger patient cohort.

Keywords: Atherosclerosis; G6P, Glucose-6-phosphate; G6PC1, Glucose-6-phosphatase enzyme; GSD Ia, Glycogen storage disease type 1a; Glycogen storage disease type 1a; HDL, High-density lipoprotein; Hyperlipidemia; Ldlr−/−, LDL receptor deficient; PUFA, Poly-unsaturated FA; SFA, Saturated fatty acids; TG, Triglycerides; VLDL, Very-low-density lipoprotein; WTD, Western-type diet.