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TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers.

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  • 1Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.

Molecular Neurodegeneration
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TREM2 variants are linked to Alzheimer's disease (AD) risk. This study found TREM2 risk variants do not alter gene expression levels, suggesting post-transcriptional effects influence AD.

Keywords:
Alzheimer’s diseaseBrain transcriptsR47HRNAseqRisk variantsSoluble TREM2TREM2

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Low-frequency coding variants in TREM2 are associated with Alzheimer's disease (AD) risk.
  • Cerebrospinal fluid (CSF) TREM2 protein levels differ between AD cases and controls, and in TREM2 risk variant carriers.
  • Previous studies have not analyzed TREM2 expression or alternative splicing in the brains of AD and cognitively normal individuals.

Purpose of the Study:

  • To investigate differential expression of TREM2 in sporadic AD cases, AD-TREM2 carriers, and healthy controls.
  • To determine if differential expression is due to specific TREM2 transcripts.
  • To analyze TREM2 alternative splicing in human brain tissue.

Main Methods:

  • RNA-sequencing (RNA-Seq) data from parietal lobe brain tissue of AD cases (with and without TREM2 variants) and healthy controls from three independent datasets were analyzed.
  • Kallisto and the R package tximport were used to quantify transcript abundance as transcripts per million.
  • Expression levels of three TREM2 transcripts were analyzed.

Main Results:

  • All three TREM2 transcripts are expressed in the human brain cortex.
  • A transcript lacking the transmembrane domain, encoding soluble TREM2 (sTREM2), accounts for approximately 25% of sTREM2 protein levels.
  • No overall difference in TREM2 expression was observed between AD cases and controls, but an isoform lacking the 5' exon was significantly lower in TREM2-p.R62H carriers.

Conclusions:

  • TREM2 risk variants do not affect overall TREM2 expression levels in the brain.
  • The observed effects of TREM2 variants on CSF levels likely occur at a post-transcriptional level.
  • Specific TREM2 isoforms contribute to sTREM2 levels, independent of TREM2 cleavage.