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Science 4 December 1998:
Vol. 282. no. 5395, pp. 1914 - 1917
DOI: 10.1126/science.282.5395.1914
Prev | Table of Contents

Reports

Mutation-Specific Functional Impairments in Distinct Tau Isoforms of Hereditary FTDP-17

Ming Hong, Victoria Zhukareva, Vanessa Vogelsberg-Ragaglia, Zbigniew Wszolek, Lee Reed, Bruce I. Miller, Dan H. Geschwind, Thomas D. Bird, Daniel McKeel, Alison Goate, John C. Morris, Kirk C. Wilhelmsen, Gerard D. Schellenberg, John Q. Trojanowski, Virginia M.-Y. Lee *

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.

M. Hong, V. Zhukareva, V. Volgelsberg-Ragaglia, L. Reed, J. Q. Trojanowski, V.M.-Y. Lee, Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. Z. Wszolek, Department of Neurology, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA. B. I. Miller, Department of Neurology, University of California, San Francisco, CA 94143, USA. D. H. Geschwind, Department of Neurology, Program in Neurogenetics, Reed Neurological Research Center, University of California at Los Angeles, Los Angeles, CA 90095, USA. T. D. Bird, Veterans Affairs Puget Sound Health Care System, Seattle Division, and Department of Neurology, University of Washington, Seattle, WA 98195, USA. D. McKeel, Department of Pathology, Washington University School of Medicine, St. Louis, MI 63110, USA. A. Goate, Department of Psychiatry, Washington University School of Medicine, St. Louis, MI 63110, USA. J. C. Morris, Department of Neurology, Washington University School of Medicine, St. Louis, MI 63110, USA. K. C. Wilhelmsen, Department of Neurology, University of California, and Gallo Clinic and Research Center, San Francisco, CA 94110, USA. G. D. Schellenberg, Veterans Affairs Puget Sound Health Care System, Seattle Division, and Department of Neurology, University of Washington, and Department of Pharmacology, Division of Gerontology and Geriatric Medicine, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
*   To whom correspondence should be addressed: Email: vmylee{at}mail.med.upenn.edu

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Arch Neurol 58, 351-352
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   Abstract »    Full Text »    PDF »
Age-Dependent Induction of Congophilic Neurofibrillary Tau Inclusions in Tau Transgenic Mice.
T. Ishihara, B. Zhang, M. Higuchi, Y. Yoshiyama, J. Q. Trojanowski, and V. M.-Y. Lee (2001)
Am. J. Pathol. 158, 555-562
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Staging of Neurofibrillary Degeneration Caused by Human Tau Overexpression in a Unique Cellular Model of Human Tauopathy.
G. F. Hall, V. M.-Y. Lee, G. Lee, and J. Yao (2001)
Am. J. Pathol. 158, 235-246
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