Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Alzheimer's disease

A protective mutation

A rare gene variant has been found that decreases the peptide deposition seen in the brains of people with Alzheimer's disease. The mutation may also slow the normal cognitive decline that occurs with age. See Letter p.96

This is a preview of subscription content, access via your institution

Access options

Rent or buy this article

Get just this article for as long as you need it


Prices may be subject to local taxes which are calculated during checkout

Figure 1: Amyloid precursor protein and Alzheimer's disease.


  1. De Strooper, B. Physiol. Rev. 90, 465–494 (2010).

    Article  CAS  Google Scholar 

  2. Haass, C. & Selkoe, D. J. Nature Rev. Mol. Cell Biol. 8, 101–112 (2007).

    Article  CAS  Google Scholar 

  3. Benilova, I., Karran, E. & De Strooper, B. Nature Neurosci. 15, 349–357 (2012).

    Article  CAS  Google Scholar 

  4. Eisenberg, D. & Jucker, M. Cell 148, 1188–1203 (2012).

    Article  CAS  Google Scholar 

  5. Stöhr, J. et al. Proc. Natl Acad. Sci. USA 109, 11025–11030 (2012).

    Article  ADS  Google Scholar 

  6. Jonsson, T. et al. Nature 488, 96–99 (2012).

    Article  ADS  CAS  Google Scholar 

  7. Di Fede, G. et al. Science 323, 1473–1477 (2009).

    Article  ADS  CAS  Google Scholar 

  8. Kong, A. et al. Nature Genet. 40, 1068–1075 (2008).

    Article  CAS  Google Scholar 

  9. Marchini, J., Howie, B., Myers, S., McVean, G. & Donnelly, P. Nature Genet. 39, 906–913 (2007).

    Article  CAS  Google Scholar 

  10. De Strooper, B., Vassar, R. & Golde, T. Nature Rev. Neurol. 6, 99–107 (2010).

    Article  CAS  Google Scholar 

  11. Karran, E., Mercken, M. & De Strooper, B. Nature Rev. Drug Discov. 10, 698–712 (2011).

    Article  CAS  Google Scholar 

  12. Meinhardt, J. et al. Protein Sci. 16, 1214–1222 (2007).

    Article  CAS  Google Scholar 

  13. Chávez-Gutiérrez, L. et al. EMBO J. 31, 2261–2274 (2012).

    Article  Google Scholar 

  14. Wilquet, V. & De Strooper, B. Curr. Opin. Neurobiol. 14, 582–588 (2004).

    Article  CAS  Google Scholar 

  15. Goate, A. & Hardy, J. J. Neurochem. 120, 3–8 (2012).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations


Corresponding author

Correspondence to Bart De Strooper.

Ethics declarations

Competing interests

B.D.S. is a consultant for Janssen Pharmaceutica, Beerse; Envivo Pharmaceuticals, Boston; and Remynd NV, Leuven. He also receives research funding from Janssen Pharmaceutica, Beerse.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

De Strooper, B., Voet, T. A protective mutation. Nature 488, 38–39 (2012).

Download citation

  • Published:

  • Issue Date:

  • DOI:


Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing