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Publication Detail
A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Grover A, England E, Baker M, Sahara N, Adamson J, Granger B, Houlden H, Passant U, Yen S-H, DeTure M, Hutton M
  • Publication date:
  • Pagination:
    131, 140
  • Journal:
    Exp Neurol
  • Volume:
  • Issue:
  • Status:
  • Country:
    United States
  • Print ISSN:
  • PII:
  • Language:
  • Keywords:
    Aged, Amino Acid Sequence, DNA, Dementia, Exons, Frontal Lobe, Heparin, Humans, Immunohistochemistry, Microtubules, Molecular Sequence Data, Mutagenesis, Site-Directed, Mutation, Phenotype, Reverse Transcriptase Polymerase Chain Reaction, Temporal Lobe, tau Proteins
A novel mutation in exon 9 of tau, I260V, is associated with a clinical syndrome consistent with frontotemporal dementia with extensive tau pathology; however, neurofibrillary tangles and Pick bodies are absent. Significantly, Sarkosyl-insoluble tau extracted from affected brain tissue consisted almost exclusively of four-repeat isoforms. Consistent with these findings, in vitro biochemical assays demonstrated that the I260V mutation causes a selective increase in tau aggregation and a decrease in tau-induced microtubule assembly with four-repeat isoforms only. The contrasting pathology and biochemical effects of this mutation suggest a different disease mechanism from the other exon 9 mutations and demonstrates the critical role for the first microtubule-binding domain in tau-promoted microtubule assembly and the pathogenic aggregation of tau.
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