α-synuclein as an emerging pathophysiological biomarker of Alzheimer's disease

Expert Rev Mol Diagn. 2022 Apr;22(4):411-425. doi: 10.1080/14737159.2022.2068952. Epub 2022 May 6.

Abstract

Introduction: α-syn aggregates represent the pathological hallmark of synucleinopathies as well as a frequent copathology (almost 1/3 of cases) in AD. Recent research indicates a potential role of α-syn species, measured in CSF with conventional analytical techniques, in the differential diagnosis between AD and synucleinopathies (such as DLB). Pioneering studies report the detection of α-syn in blood, however, conclusive investigations are controversial. Ultrasensitive seed amplification techniques, enabling the selective quantification of α-syn seeds, may represent an effective solution to identify the α-syn component in AD and facilitate a biomarker-guided stratification.

Areas covered: We performed a PubMed-based review of the latest findings on α-syn-related biomarkers for AD, focusing on bodily fluids. A dissertation on the role of ultrasensitive seed amplification assays, detecting α-syn seeds from different biological samples, was conducted.

Expert opinion: α-syn may contribute to progressive AD neurodegeneration through cross-seeding especially with tau protein. Ultrasensitive seed amplification techniques may support a biomarker-drug co-development pathway and may be a pathophysiological candidate biomarker for the evolving ATX(N) system to classify AD and the spectrum of primary NDDs. This would contribute to a precise approach to AD, aimed at implementing disease-modifying treatments.

Keywords: Alzheimer’s disease; PMCA; RT-QuIC; alpha-synuclein; fluid biomarkers; neurodegenerative diseases; precision medicine.

Publication types

  • Review

MeSH terms

  • Alzheimer Disease* / diagnosis
  • Alzheimer Disease* / metabolism
  • Biomarkers
  • Diagnosis, Differential
  • Humans
  • Synucleinopathies*
  • alpha-Synuclein* / metabolism

Substances

  • Biomarkers
  • alpha-Synuclein