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MAPT haplotype-associated transcriptomic changes in progressive supranuclear palsy.

Hadley W Ressler1,2,3,4, Jack Humphrey2,5,3,6,7, Ricardo A Vialle2,5,3,6,7

  • 1Department of Pathology, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.

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Summary
This summary is machine-generated.

Progressive supranuclear palsy (PSP) is linked to increased four-repeat (4R) tau mRNA, particularly with the H1 haplotype. This finding suggests altered tau mRNA expression may contribute to PSP development.

Keywords:
KANSL1MAPT haplotype17q21.31Progressive supranuclear palsyRNA-seqTauopathy

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by abnormal tau protein accumulation.
  • PSP pathology involves tau proteoforms with four microtubule-binding domain repeats (4R).
  • The MAPT gene locus (17q21.31) exhibits structural variations (haplotypes H1/H2) influencing gene expression.

Purpose of the Study:

  • To investigate haplotype-dependent differences in gene expression and alternative splicing in PSP.
  • To explore the role of tau mRNA isoform expression in PSP pathogenesis.

Main Methods:

  • Bulk RNA sequencing on post-mortem brain tissue from PSP patients and controls.
  • Rigorous computational analysis including differential gene expression and alternative splicing.
  • Association analysis of gene expression with MAPT haplotypes (H1/H2).

Main Results:

  • Significant differential gene expression and splicing events were identified in PSP brains.
  • Increased total tau mRNA and 4R tau transcripts were observed in PSP cerebellum.
  • The proportion of 4R tau mRNA was elevated in PSP temporal cortex and associated with the H1 haplotype.
  • KANSL1 expression showed a strong H1 haplotype association in both brain regions.

Conclusions:

  • Findings support the hypothesis that sporadic PSP involves haplotype-dependent increases in 4R tau mRNA.
  • Altered tau mRNA expression may play a causal role in PSP pathogenesis.
  • Haplotype-driven gene expression differences, like KANSL1, could contribute to PSP.