Modulation of the maladaptive stress response to manage diseases of protein folding

PLoS Biol. 2014 Nov 18;12(11):e1001998. doi: 10.1371/journal.pbio.1001998. eCollection 2014 Nov.

Abstract

Diseases of protein folding arise because of the inability of an altered peptide sequence to properly engage protein homeostasis components that direct protein folding and function. To identify global principles of misfolding disease pathology we examined the impact of the local folding environment in alpha-1-antitrypsin deficiency (AATD), Niemann-Pick type C1 disease (NPC1), Alzheimer's disease (AD), and cystic fibrosis (CF). Using distinct models, including patient-derived cell lines and primary epithelium, mouse brain tissue, and Caenorhabditis elegans, we found that chronic expression of misfolded proteins not only triggers the sustained activation of the heat shock response (HSR) pathway, but that this sustained activation is maladaptive. In diseased cells, maladaptation alters protein structure-function relationships, impacts protein folding in the cytosol, and further exacerbates the disease state. We show that down-regulation of this maladaptive stress response (MSR), through silencing of HSF1, the master regulator of the HSR, restores cellular protein folding and improves the disease phenotype. We propose that restoration of a more physiological proteostatic environment will strongly impact the management and progression of loss-of-function and gain-of-toxic-function phenotypes common in human disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antineoplastic Agents, Alkylating / therapeutic use
  • Caenorhabditis elegans
  • Cell Line
  • Cystic Fibrosis / drug therapy
  • Cystic Fibrosis / etiology*
  • Cystic Fibrosis / metabolism
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism*
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Diterpenes / therapeutic use
  • Drug Evaluation, Preclinical
  • Epoxy Compounds / therapeutic use
  • Gene Silencing
  • Heat Shock Transcription Factors
  • Humans
  • Intramolecular Oxidoreductases / genetics
  • Intramolecular Oxidoreductases / metabolism
  • Mice, Transgenic
  • Organoids
  • Phenanthrenes / therapeutic use
  • Prostaglandin-E Synthases
  • Protein Folding
  • Proteostasis Deficiencies / genetics*
  • Respiratory Mucosa / metabolism
  • Stress, Physiological
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism

Substances

  • Antineoplastic Agents, Alkylating
  • CFTR protein, human
  • DNA-Binding Proteins
  • Diterpenes
  • Epoxy Compounds
  • HSF1 protein, human
  • Heat Shock Transcription Factors
  • Phenanthrenes
  • Transcription Factors
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • triptolide
  • Intramolecular Oxidoreductases
  • Prostaglandin-E Synthases