Alternative splicing of exon 10 in the tau gene as a target for treatment of tauopathies
2008

Targeting Exon 10 Splicing in the Tau Gene for Tauopathies Treatment

publication Evidence: moderate

Author Information

Author(s): Zhou Jianhua, Yu Qingming, Zou Tie

Primary Institution: University of Massachusetts Medical School

Hypothesis

Modulation of exon 10 splicing in the tau gene could potentially be targeted to prevent tauopathies.

Conclusion

Abnormal splicing of exon 10 in tau mRNA promotes the production of 4R-tau, which is linked to tauopathies.

Supporting Evidence

  • More than 35 mutations in the tau gene have been identified from FTDP-17 patients.
  • Abnormal splicing with inclusion of exon 10 into tau mRNA has been observed in PSP and AD patients.
  • Studies indicate that aberrant exon 10 splicing is one of the most important mechanisms in the pathogenesis of tauopathies.

Takeaway

This study looks at how changing a part of a gene called exon 10 might help treat brain diseases caused by tau proteins getting tangled up.

Methodology

The study established a cell-based high-throughput screening assay to identify small molecules that can regulate exon 10 splicing.

Digital Object Identifier (DOI)

10.1186/1471-2202-9-S2-S10

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