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Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism.

Ivó H Hernández1,2,3, Jorge R Cabrera1,2, María Santos-Galindo1,2

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Huntington's disease and X-linked dystonia parkinsonism share a common pathway involving altered RNA processing and TAF1 gene expression. Restoring SREK1 levels can correct TAF1 deficiency and ameliorate Huntington's disease symptoms.

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Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • Huntington's disease (HD) and X-linked dystonia parkinsonism (XDP) are basal ganglia disorders caused by genetic mutations.
  • HD involves CAG repeat expansion in the Huntingtin (HTT) gene, leading to toxic protein and mRNA interactions.
  • XDP results from a TAF1 gene mutation, decreasing its expression and affecting the TFIID transcription factor complex.

Purpose of the Study:

  • To investigate a potential convergence in the pathogenesis of HD and XDP.
  • To explore the role of RNA-binding proteins SRSF6 and SREK1 in these diseases.
  • To determine if TAF1 is a common link and therapeutic target.

Main Methods:

  • RNA interference (RNAi) to diminish SRSF6 in neuroblastoma cells.
  • Analysis of SREK1 and TAF1 levels in patient and mouse models.
  • Generation of transgenic mice overexpressing SREK1 (TgSREK1).
  • Transcriptomic analysis and phenotypic evaluation of mouse models.

Main Results:

  • Diminishing SRSF6 reduced SREK1 levels, which in turn decreased TAF1 levels.
  • Decreased SREK1 and TAF1 levels were observed in HD patient striatum and mouse models.
  • TgSREK1 mice exhibited transcriptomic changes complementary to HD mice.
  • SREK1 overexpression corrected TAF1 deficiency and attenuated HD phenotypes in mice.

Conclusions:

  • Altered RNA processing due to SREK1 dysregulation is crucial in HD pathogenesis.
  • TAF1 deficiency is a key factor in striatal vulnerability in neurological disorders.
  • SREK1 represents a potential therapeutic target for HD and possibly other basal ganglia diseases.