The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells

J Hum Genet. 2007;52(4):362-369. doi: 10.1007/s10038-007-0124-7. Epub 2007 Feb 22.


To clarify the functional effects of mutant glial fibrillary acidic protein (GFAP), we examined the expression patterns of mutant GFAPs (V87G, R88C, and R416W) in astrocytoma-derived cells and performed migration assay. The morphological change was found in mutant GFAP cells, although the number of changes was small. On migration assay, the migration rate in cells with the V87G or R88C mutation, which are located in the helical rod domain in GFAP, was significantly higher than those of wild-type and R416W. These findings suggest that the functional abnormalities of astrocytes might be induced prior to aggregation of GFAP in Alexander disease and that the functional alteration depends on the location of the domain.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alexander Disease / genetics*
  • Astrocytes / chemistry
  • Astrocytes / cytology
  • Astrocytes / metabolism
  • Astrocytoma
  • Cell Line, Tumor
  • Cell Movement / genetics
  • Gene Expression*
  • Glial Fibrillary Acidic Protein / analysis
  • Glial Fibrillary Acidic Protein / genetics
  • Glial Fibrillary Acidic Protein / metabolism*
  • Humans
  • Point Mutation
  • Protein Structure, Tertiary / genetics


  • Glial Fibrillary Acidic Protein