Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP.
Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene were recently found to be associated with Alexander disease. We examined the functional effect of such mutations, and observed a decrease in GFAP dimerization. This effect behaves in a dominant fashion and points towards a potential mechanism in pathogenesis.
Nielsen
Anders L
AL
Department of Human Genetics, The Bartholin Building, University of Aarhus, DK-8000 Aarhus C, Denmark. aln@mbio.aau.dk
Jørgensen
Poul
P
Jørgensen
Arne L
AL
D038261:Alexander Disease / Q000235:genetics* / Q000378:metabolism; D015153:Blotting, Western; D019281:Dimerization; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D007382:Intermediate Filaments / Q000648:ultrastructure; D009154:Mutation; D020798:Two-Hybrid System Techniques
D005904:Glial Fibrillary Acidic Protein