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Genome-wide association study and functional validation implicates JADE1 in tauopathy.

Kurt Farrell1,2,3, SoongHo Kim1,2,3, Natalia Han1,2,3

  • 1Department of Pathology, Neuropathology Brain Bank and Research CoRE, 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.

Primary age-related tauopathy (PART) shares genetic links with Alzheimer's disease (AD) and other tauopathies. This study identifies JADE1 as a novel gene involved in PART pathology, potentially modifying neurofibrillary degeneration.

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Area of Science:

  • Neuroscience
  • Genetics
  • Pathology

Background:

  • Primary age-related tauopathy (PART) is a neurodegenerative disease overlapping with Alzheimer's disease (AD) but independent of amyloid-β plaques.
  • PART pathogenesis is unknown, but genetic factors influencing tau pathology and Aβ toxicity are suspected.
  • Understanding PART's genetic architecture is crucial for differentiating it from AD and other tauopathies.

Purpose of the Study:

  • To investigate the genetic associations and molecular mechanisms underlying Primary age-related tauopathy (PART).
  • To identify novel genes and pathways involved in PART pathogenesis.
  • To explore the role of JADE1 in tau aggregation and neurodegeneration.

Main Methods:

  • Genetic association study in an autopsy cohort (n=647) using Braak neurofibrillary tangle stage.
  • Genome-wide association analysis to identify significant single nucleotide polymorphisms (SNPs).
  • Single-soma RNA-seq, immunohistochemistry, co-immunoprecipitation, and Drosophila models to study JADE1 function.

Main Results:

  • Significant genetic associations found with loci related to AD and progressive supranuclear palsy.
  • A novel significant association identified with a SNP on chromosome 4 (rs56405341) near the JADE1 gene.
  • JADE1 was upregulated in tangle-bearing neurons, localized to tau aggregates, bound to 0N4R tau, and its knockdown exacerbated tau toxicity in vivo.

Conclusions:

  • PART exhibits a genetic architecture partially overlapping with AD and other tauopathies.
  • JADE1 is identified as a novel gene implicated in PART.
  • JADE1 may play a role as a modifier of neurofibrillary degeneration in PART.