Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice

J Neurosci. 2008 Jan 2;28(1):60-7. doi: 10.1523/JNEUROSCI.3962-07.2008.

Abstract

Increased iron levels and iron-mediated oxidative stress play an important role in the pathogenesis of many neurodegenerative diseases. The finding that mutations in the ferritin light polypeptide (FTL) gene cause a neurodegenerative disease known as neuroferritinopathy or hereditary ferritinopathy (HF) provided a direct connection between abnormal brain iron storage and neurodegeneration. HF is characterized by a severe movement disorder and by the presence of nuclear and cytoplasmic ferritin inclusion bodies in glia and neurons throughout the CNS and in tissues of multiple organ systems. Here we report that the expression in transgenic mice of a human FTL cDNA carrying a thymidine and cytidine insertion at position 498 (FTL498-499InsTC) leads to the formation of nuclear and cytoplasmic ferritin inclusion bodies. As in HF, ferritin inclusions are seen in glia and neurons throughout the CNS as well as in cells of other organ systems. Our studies show histological, immunohistochemical, and biochemical similarities between ferritin inclusion bodies found in transgenic mice and in individuals with HF. Expression of the transgene in mice leads to a significant decrease in motor performance and a shorter life span, formation of ferritin inclusion bodies, misregulation of iron metabolism, accumulation of ubiquitinated proteins, and incorporation of elements of the proteasome into inclusions. This new transgenic mouse represents a relevant model of HF in which to study the pathways that lead to neurodegeneration in HF, to evaluate the role of iron mismanagement in neurodegenerative disorders, and to evaluate potential therapies for HF and related neurodegenerative diseases.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Apoferritins
  • Behavior, Animal
  • Brain / pathology
  • Brain / ultrastructure
  • Disease Models, Animal
  • Ferritins / genetics*
  • Gene Expression / genetics*
  • Humans
  • Iron / metabolism
  • Iron Overload / genetics*
  • Iron Overload / metabolism
  • Iron Overload / pathology
  • Iron Overload / physiopathology
  • Magnetic Resonance Imaging / methods
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Microscopy, Electron, Transmission / methods
  • Motor Activity / genetics
  • Mutation / genetics*
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / metabolism
  • Neurodegenerative Diseases / pathology
  • Neurodegenerative Diseases / physiopathology

Substances

  • FTL protein, human
  • Ferritins
  • Apoferritins
  • Iron