Characterization of the contactin 5 protein and its risk‐associated polymorphic variant throughout the Alzheimer's disease spectrum
Alzheimer's & Dementia, 2022
Dauar M., Labonté A., Picard C., Miron J., Rosa‐Neto P., Zetterberg H., Blennow K., Villeneuve S., Poirier J.
| Disease area | Application area | Sample type | Products |
|---|---|---|---|
Neurology | Pathophysiology | CSF |  Olink Target 96 |
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