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Characterization of the contactin 5 protein and its risk-associated polymorphic variant throughout the Alzheimer's disease spectrum. | LitMetric

AI Article Synopsis

  • The study focuses on the relationship between the CNTN5 rs1461684 G variant and contactin 5 protein in sporadic Alzheimer's disease (sAD).
  • It measures contactin 5 levels and Alzheimer's biomarkers in cerebrospinal fluid (CSF) and brain tissue, finding that contactin 5 is higher in healthy individuals but lower in those with cognitive impairments.
  • The rs1461684 G variant is linked to faster disease progression and reduced gene expression, especially in the early stages of Alzheimer's.

Article Abstract

Introduction: We investigate the CNTN5 rs1461684 G variant and the contactin 5 protein in sporadic Alzheimer's disease (sAD).

Methods: Contactin 5, sAD biomarkers, and synaptic markers were measured in the cerebrospinal fluid (CSF). Amyloid and tau deposition were assessed using positron emission tomography. Contactin 5 protein and mRNA levels were measured in brain tissue.

Results: CSF contactin 5 increases progressively in cognitively unimpaired individuals and is decreased in mild cognitive impairment and sAD. CSF contactin 5 correlates with sAD biomarkers and with synaptic markers. The rs1461684 G variant associates with faster disease progression in cognitively unimpaired subjects. Cortical full-length and isoform 3 CNTN5 mRNAs are decreased in the presence of the G allele and as a function of Consortium to Establish a Registry for Alzheimer's Disease stages.

Discussion: The newly identified rs1461684 G variant associates with sAD risk, rate of disease progression, and gene expression. Contactin 5 protein and mRNA are affected particularly in the early stages of the disease.

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Source
http://dx.doi.org/10.1002/alz.12868DOI Listing

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