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Neurobiology

Presenilin-1 mutations in Alzheimer's disease

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Abstract

Mutations in the gene encoding the protein presenilin-1 are the most common cause of familial Alzheimer's disease1 and they often produce a different disease course from sporadic Alzheimer's and another familial form associated with mutations in the gene encoding β-amyloid precursor protein2. Here we show that a peculiar form of β-amyloid that is devoid of the first ten amino acids accumulates in the brains of patients carrying presenilin-1 mutations, and is more abundant than in subjects affected by the other types of Alzheimer's.

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Figure 1: Characterization of peptides derived from β-amyloid precursor protein.

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Author notes

  1. J. K. Teller

    Present address: Department of Physiology, Brody School of Medicine, East Carolina University, Greenville, North Carolina, 27834, USA

Authors and Affiliations

  1. Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, 44106, Ohio, USA

    C. Russo, P. Gambetti & J. K. Teller

  2. Neuroscience Department, National Institute for Cancer Research Advanced Biotechnology Center, Section of Pharmacology University of Genova, Italy

    C. Russo & G. Schettini

  3. Laboratory for Proteolytic Neuroscience, RIKEN Brain Science Institute, Saitama, Japan

    T. C. Saido

  4. Kathleen Price Bryan Brain Bank and Neuropathology Core, Duke University Medical Center, Durham, 27710, North Carolina, USA

    C. Hulette

  5. Department of Neurology, MCP Hahnemann University, Philadelphia, 19129 , Pennsylvania, USA

    C. Lippa

  6. Karolinska Institute, Geriatric Laboratory, Huddinge Hospital, Huddinge, 141 46, Sweden

    L. Lannfelt

  7. Department of Pathology, Indiana University Medical Center, Indianapolis, 46202 , Indiana, USA

    B. Ghetti

  8. Institute of Neurology, Genova, Italy

    M. Tabaton

Authors
  1. C. Russo
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  2. G. Schettini
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  3. T. C. Saido
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  4. C. Hulette
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  5. C. Lippa
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  6. L. Lannfelt
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  7. B. Ghetti
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  8. P. Gambetti
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  9. M. Tabaton
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  10. J. K. Teller
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Corresponding author

Correspondence to P. Gambetti.

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Russo, C., Schettini, G., Saido, T. et al. Presenilin-1 mutations in Alzheimer's disease . Nature 405, 531–532 (2000). https://doi.org/10.1038/35014735

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