The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB

Hum Mol Genet. 2008 Jun 1;17(11):1527-39. doi: 10.1093/hmg/ddn041. Epub 2008 Feb 11.

Abstract

Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is an autosomal dominant dementia that is characterized by the retention of polymers of neuroserpin as inclusions within the endoplasmic reticulum (ER) of neurons. We have developed monoclonal antibodies that detect polymerized neuroserpin and have used COS-7 cells, stably transfected PC12 cell lines and transgenic Drosophila melanogaster to characterize the cellular handling of all four mutant forms of neuroserpin that cause FENIB. We show a direct correlation between the severity of the disease-causing mutation and the accumulation of neuroserpin polymers in cell and fly models of the disease. Moreover, mutant neuroserpin causes locomotor deficits in the fly allowing us to demonstrate a direct link between polymer accumulation and neuronal toxicity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Genetically Modified
  • Antibodies, Monoclonal / immunology
  • COS Cells
  • Chlorocebus aethiops
  • Dementia / diagnosis*
  • Dementia / genetics
  • Dementia / metabolism*
  • Disease Models, Animal
  • Drosophila melanogaster / genetics
  • Endoplasmic Reticulum / chemistry
  • Endoplasmic Reticulum / metabolism
  • Humans
  • Neurons / metabolism
  • Neuropeptides / analysis*
  • Neuropeptides / genetics
  • Neuropeptides / metabolism*
  • Neuroserpin
  • PC12 Cells
  • Polymers / analysis
  • Polymers / metabolism
  • Rats
  • Serpins / analysis*
  • Serpins / genetics
  • Serpins / metabolism*
  • Transfection

Substances

  • Antibodies, Monoclonal
  • Neuropeptides
  • Polymers
  • Serpins