Journal
MOLECULAR GENETICS AND METABOLISM
Volume 122, Issue 3, Pages 95-98Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2017.08.013
Keywords
Autophagy; Von Gierke's disease; GSD Ia; Rapamycin; Kidney; ER stress; Glucose-6-phosphatase; Glucose-6-phosphate; Glycogen storage disease type I
Funding
- Singapore NMRC [NMRC/CIRG/1340/2012, NMRC/CSA/0054/2013]
- Alice and Y. T. Chen Center for Genetics and Genomics
- National Institute of Diabetes and Digestive and Kidney Diseases [R01DK105434]
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GSD Ia (von Gierke Disease, Glycogen Storage Disease Type Ia) is a devastating genetic disorder with long-term sequelae, such as non-alcoholic fatty liver disease and renal failure. Down-regulated autophagy is involved in the development of hepatic metabolic dysfunction in GSD Ia; however, the role of autophagy in the renal pathology is unknown. Here we show that autophagy is impaired and endoplasmic reticulum (ER) stress is increased in the kidneys of a mouse model of GSD Ia. Induction of autophagy by rapamycin also reduces this ER stress. Taken together, these results show an additional role for autophagy down-regulation in the pathogenesis of GSD Ia, and provide further justification for the use of autophagy modulators in GSD Ia.
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