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      Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.

      Science (New York, N.Y.)

      Alternative Splicing, Brain, metabolism, Cerebellum, Chromosomes, Human, Pair 17, Dementia, genetics, Frontal Lobe, Humans, Microtubules, Mutation, Mutation, Missense, Parkinson Disease, Secondary, Phosphorylation, Protein Isoforms, chemistry, Recombinant Proteins, Solubility, Syndrome, tau Proteins

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          Abstract

          Tau proteins aggregate as cytoplasmic inclusions in a number of neurodegenerative diseases, including Alzheimer's disease and hereditary frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Over 10 exonic and intronic mutations in the tau gene have been identified in about 20 FTDP-17 families. Analyses of soluble and insoluble tau proteins from brains of FTDP-17 patients indicated that different pathogenic mutations differentially altered distinct biochemical properties and stoichiometry of brain tau isoforms. Functional assays of recombinant tau proteins with different FTDP-17 missense mutations implicated all but one of these mutations in disease pathogenesis by reducing the ability of tau to bind microtubules and promote microtubule assembly.

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          9836646

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