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Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia
Jun-Ho Cho1, Goo-Young Kim1, Brian C Mansfield1,2
1Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room 8N240C, NIH, 10 Center Drive, Bethesda, MD, 20892-1830, USA.
Journal of Inherited Metabolic Disease
|May 10, 2018
Summary
Glycogen storage disease type Ia (GSD-Ia) involves impaired glucose homeostasis. This study reveals that reduced sirtuin 1 (SIRT1) signaling in GSD-Ia causes mitochondrial dysfunction and DNA damage, potentially leading to liver cancer.
Area of Science:
- Biochemistry
- Cell Biology
- Metabolic Disorders
Background:
- Glycogen storage disease type Ia (GSD-Ia) is a metabolic disorder affecting glucose homeostasis.
- Hepatocellular adenoma/carcinoma (HCA/HCC) is a long-term complication of GSD-Ia.
- Mitochondrial dysfunction is implicated in GSD-Ia, but mechanisms are unclear.
Purpose of the Study:
- To investigate the role of sirtuin 1 (SIRT1) and peroxisome proliferator-activated receptor-γ coactivator 1α (PGC-1α) signaling in GSD-Ia.
- To determine the contribution of mitochondrial dysfunction to HCA/HCC development in GSD-Ia.
Main Methods:
- Assessed hepatic SIRT1 and PGC-1α signaling in G6Pase-α-deficient mouse models.
- Analyzed mitochondrial function, including oxidative phosphorylation and electron transport chain components.
- Examined mitochondrial and oxidative DNA damage in HCA/HCC lesions.
Main Results:
- G6Pase-α deficiency downregulated hepatic SIRT1/PGC-1α signaling, leading to impaired mitochondrial function.
- Overexpression of SIRT1 restored PGC-1α activity and mitochondrial function.
- HCA/HCC lesions showed significant mitochondrial and oxidative DNA damage.
Conclusions:
- Downregulation of hepatic SIRT1/PGC-1α signaling is a key mechanism underlying mitochondrial dysfunction in GSD-Ia.
- Mitochondrial dysfunction and subsequent oxidative DNA damage may contribute to HCA/HCC development in GSD-Ia.
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