Increased Aβ42(43) from cell lines expressing presenilin 1 mutations

Nitin D. Mehta, Lawrence M. Refolo, Chris Eckman, Sunny Sanders, Debra Yager, Jordi Perez-Tur, Steve Younkin, Karen Duff, John Hardy, Mike Hutton

Research output: Contribution to journalArticlepeer-review

90 Scopus citations


Mutations in the presenilln 1 (PS1) gene on chromosome 14 are a major cause of autosomal dominant, early-onset Alzheimer's disease. Here, we show that transfecting cells with several mutant, but not wild-type, PS1 cDNAs alters the processing of the amyloid precursor protein (APP) such that more Aβ42(43) is produced, confirming and extending several recent reports. The most effective mutation in this regard was the exon 9 splice-out mutation (Δ9). The correlation between the size of the effect on APP processing and the age of onset of disease assessed in families with the mutations was not informative, and the possible reasons for this are discussed.

Original languageEnglish (US)
Pages (from-to)256-258
Number of pages3
JournalAnnals of neurology
Issue number2
StatePublished - Feb 1998

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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