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Basic Science and Pathogenesis.

Anssi Lipponen1, Sami Heikkinen1, Joel Räsänen2,3

  • 1University of Eastern Finland, Kuopio, Finland.

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Summary
This summary is machine-generated.

Genetic variants in SLCO1A2 influence idiopathic normal pressure hydrocephalus (iNPH) and Alzheimer's disease (AD) onset age and amyloid beta (Aβ) levels. This research identifies potential mechanisms for cerebrospinal fluid (CSF) clearance in these neurodegenerative diseases.

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Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Impaired cerebrospinal fluid (CSF) clearance in idiopathic normal pressure hydrocephalus (iNPH) and Alzheimer's disease (AD) contributes to neurodegeneration.
  • Both iNPH and AD exhibit memory deficits and altered CSF levels of amyloid beta (Aβ) and Tau, suggesting overlapping pathologies.
  • Genetic variants may underlie these shared mechanisms by affecting protein levels or gene expression related to CSF clearance.

Purpose of the Study:

  • To confirm and identify genetic variants at loci previously identified by a genome-wide association study (GWAS) for iNPH.
  • To investigate the association of these variants with clinical phenotypes, including disease onset age and CSF biomarker levels (Aβ42, Tau).
  • To validate the functional impact of identified variants on Aβ42 and Tau clearance across the blood-CSF barrier (BCB).

Main Methods:

  • Whole genome sequencing (WGS) of approximately 300 iNPH patients from the Kuopio cohort.
  • Genotype-phenotype association analysis within the Kuopio cohort, incorporating immunohistochemistry, CSF biomarkers, and cognitive data.
  • Utilizing FinnGen data for larger-scale analysis of variant effects on onset age and CSF biomarkers in NPH and AD patients.
  • Employing a cell model of the BCB to assess variant effects on Aβ42 and Tau clearance from CSF to blood.

Main Results:

  • Preliminary findings show that WGS-confirmed variants within the SLCO1A2 loci are associated with altered onset age in both iNPH and AD.
  • These SLCO1A2 variants also correlate with modified Aβ42 levels in the CSF of iNPH patients.
  • These results suggest a functional role for SLCO1A2 in the pathogenesis of iNPH and AD.

Conclusions:

  • The study provides a functional proof-of-concept demonstrating that genotype-phenotype analysis can identify variants impacting CSF clearance mechanisms.
  • Further validation of identified variants' effects on CSF clearance is planned using a BCB cell model.
  • These findings may reveal novel therapeutic targets for iNPH and AD by addressing impaired protein clearance pathways.