The role of autophagy in alpha-1-antitrypsin deficiency

Tunda Hidvegi, Amitava Mukherjee, Michael Ewing, Carolyn Kemp, David H. Perlmutter

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

16 Scopus citations


In the classical form of alpha-1-antitrypsin (AT) deficiency, a mutant protein accumulates in the endoplasmic reticulum of liver cells, causing hepatic fibrosis and hepatocellular carcinoma by a gain-of-toxic function mechanism. Autophagy is specifically activated by the accumulation of mutant AT, and the autophagy plays a key role in intracellular degradation of this mutant protein. Our recent study indicates that an autophagy enhancer drug can decrease the hepatic load of mutant AT and reduce hepatic fibrosis in a mouse model of AT deficiency. In this chapter, we discuss what is known about autophagy in AT deficiency and methods for characterizing autophagy in cell lines and animal models.

Original languageEnglish
Title of host publicationMethods in Enzymology
PublisherAcademic Press Inc.
Number of pages22
StatePublished - 2011

Publication series

NameMethods in Enzymology
ISSN (Print)0076-6879
ISSN (Electronic)1557-7988


  • Aggregation-prone protein
  • Autophagic response
  • Chronic obstructive pulmonary disease
  • ER stress
  • Hepatic fibrosis
  • Proteostasis regulation


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