The heat shock response modulates transthyretin deposition in the peripheral and autonomic nervous systems

Neurobiol Aging. 2010 Feb;31(2):280-9. doi: 10.1016/j.neurobiolaging.2008.04.001.

Abstract

Familial amyloidotic polyneuropathy (FAP) is a neurodegenerative disease that selectively affects the peripheral nervous system. The putative cause of this life threatening pathology is tissue deposition of mutant transthyretin (TTR), initially as non-fibrillar deposits and later as fibrillar material. The mouse models currently available do not recapitulate the human whole features, since the peripheral nervous tissue is spared. We have characterized a new mouse model expressing the human transthyretin V30M in a heat shock transcription factor 1 (Hsf1) null background. The lack of HSF1 expression leads to an extensive and earlier non-fibrillar TTR, evolving into fibrillar material in distinct organs including the peripheral nervous system. Furthermore, inflammatory stress and a reduction in unmyelinated nerve fibers were observed, as in human patients. These results indicate that HSF1 regulated genes are involved in FAP, modulating TTR tissue deposition. The novel mouse model is of the utmost importance in testing new therapeutic strategies and in addressing the influence of the stress response in misfolding diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloid Neuropathies, Familial
  • Animals
  • Autonomic Nervous System / pathology
  • Autonomic Nervous System / physiopathology*
  • Autonomic Nervous System / ultrastructure
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Disease Models, Animal
  • HSP70 Heat-Shock Proteins / metabolism
  • Heat Shock Transcription Factors
  • Humans
  • Inflammation / physiopathology
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Mutation
  • Nerve Fibers, Unmyelinated / pathology
  • Nerve Fibers, Unmyelinated / physiology
  • Peripheral Nervous System / pathology
  • Peripheral Nervous System / physiopathology*
  • Peripheral Nervous System / ultrastructure
  • Prealbumin / genetics
  • Prealbumin / metabolism*
  • Sciatic Nerve / pathology
  • Sciatic Nerve / physiopathology
  • Sciatic Nerve / ultrastructure
  • Signal Transduction
  • Skin / metabolism
  • Stress, Physiological / physiology
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*

Substances

  • DNA-Binding Proteins
  • HSP70 Heat-Shock Proteins
  • Heat Shock Transcription Factors
  • Hsf1 protein, mouse
  • Prealbumin
  • Transcription Factors