Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Farah, BL; Landau, DJ; Wu, Y; Sinha, RA; Loh, A; Bay, B-H; Koeberl, DD; Yen, PM

Published Date

  • November 2017

Published In

Volume / Issue

  • 122 / 3

Start / End Page

  • 95 - 98

PubMed ID

  • 28888852

Pubmed Central ID

  • PMC5722666

Electronic International Standard Serial Number (EISSN)

  • 1096-7206

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2017.08.013


  • eng

Conference Location

  • United States