Selective loss of neurofilament expression in Cu/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis

J Neurochem. 2002 Sep;82(5):1118-28. doi: 10.1046/j.1471-4159.2002.01045.x.

Abstract

Neurofilament pathology is a hallmark of sporadic and familial amyotrophic lateral sclerosis (SALS and FALS). The disease mechanisms underlying this pathology are presently unclear, but recent evidence in SALS patients suggest that reductions in neurofilament light subunit (NFL) mRNA may contribute to the death of motor neurones. Mutations in the gene encoding Cu-Zn superoxide dismutase (SOD1) represent the best-studied cause of FALS, and a number of laboratory models of SOD1-mediated disease exist. Here we have used microdissected lumbar spinal cord motor neurones from human SOD1 FALS patients as well as G93A SOD1 transgenic mice and demonstrated that reduced NFL mRNA levels are seen in both. To probe the molecular mechanisms underpinning these observations, we generated NSC34 motor neurone-like cell lines expressing wild-type and mutant SOD1. NSC34 cells expressing G37R or G93A SOD1 showed selective reductions in NFL and NFM mRNA and protein. These data suggest that NFL mRNA reductions are common to SALS and FALS patients, and that cells and mice expressing mutant SOD1 may enable us to characterize the molecular mechanism(s) responsible for the loss of neurofilament mRNA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / metabolism*
  • Animals
  • Blotting, Western
  • Cell Line
  • Cells, Cultured
  • Disease Models, Animal
  • Gene Expression
  • Humans
  • Inclusion Bodies / metabolism
  • Inclusion Bodies / ultrastructure
  • Mice
  • Mice, Transgenic
  • Motor Neurons / cytology
  • Motor Neurons / metabolism*
  • Neurofilament Proteins / deficiency*
  • Neurofilament Proteins / genetics
  • Neurofilament Proteins / metabolism
  • RNA, Messenger / metabolism
  • Spinal Cord / cytology
  • Spinal Cord / metabolism
  • Spinal Cord / pathology
  • Superoxide Dismutase / biosynthesis
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase-1
  • Transfection

Substances

  • Neurofilament Proteins
  • RNA, Messenger
  • SOD1 protein, human
  • neurofilament protein L
  • neurofilament protein M
  • SOD1 G93A protein
  • Sod1 protein, mouse
  • Superoxide Dismutase
  • Superoxide Dismutase-1