Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17

J Biol Chem. 2001 Nov 16;276(46):42986-93. doi: 10.1074/jbc.M105113200. Epub 2001 Sep 17.

Abstract

Mutations in the human tau gene cause frontotemporal dementia and Parkinsonism associated with chromosome 17 (FTDP-17). One of the major disease mechanisms in FTDP-17 is the increased inclusion of tau exon 10 during pre-mRNA splicing. Here we show that modified oligonucleotides directed against the tau exon 10 splice junctions suppress inclusion of tau exon 10. The effect is mediated by the formation of a stable pre-mRNA-oligonucleotide hybrid, which blocks access of the splicing machinery to the pre-mRNA. Correction of tau splicing occurs in a tau minigene system and in endogenous tau RNA in neuronal pheochromocytoma cells and is specific to exon 10 of the tau gene. Antisense oligonucleotide-mediated exclusion of exon 10 has a physiological effect by increasing the ratio of protein lacking the microtubule-binding domain encoded by exon 10. As a consequence, the microtubule cytoskeleton becomes destabilized and cell morphology is altered. Our results demonstrate that alternative splicing defects of tau as found in FTDP-17 patients can be corrected by application of antisense oligonucleotides. These findings provide a tool to study specific tau isoforms in vivo and might lead to a novel therapeutic strategy for FTDP-17.

MeSH terms

  • Alternative Splicing*
  • Animals
  • Base Sequence
  • Blotting, Western
  • COS Cells
  • Cell Line
  • Chromosomes, Human, Pair 17*
  • Cytoskeleton / metabolism
  • Dementia / genetics*
  • Dementia / metabolism*
  • Dose-Response Relationship, Drug
  • Exons
  • Humans
  • Microscopy, Fluorescence
  • Molecular Sequence Data
  • Mutation*
  • Neurons / metabolism
  • Oligonucleotides / chemistry
  • Oligonucleotides, Antisense / metabolism
  • PC12 Cells
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism*
  • Point Mutation
  • Protein Structure, Tertiary
  • RNA / metabolism
  • RNA, Messenger / metabolism
  • Rats
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transfection
  • tau Proteins / chemistry*
  • tau Proteins / genetics*
  • tau Proteins / metabolism*

Substances

  • Oligonucleotides
  • Oligonucleotides, Antisense
  • RNA, Messenger
  • tau Proteins
  • RNA