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Blood Studies for Cardiovascular System I: Cardiac Biomarkers01:20

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Cardiac biomarkers are enzymes, proteins, and hormones released into the blood when cardiac cells are injured. They are powerful tools for triaging.
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Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
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Dried Blood Spot Collection of Health Biomarkers to Maximize Participation in Population Studies
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Biomarkers.

Rowan Saloner1, Joshua Downer2, Argentina Lario Lago3

  • 1Memory and Aging Center, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 24, 2025
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Summary
This summary is machine-generated.

Blood proteomics can detect familial frontotemporal lobar degeneration (FTLD) changes before symptom onset. This study used NULISAseq to identify key plasma proteins indicating early FTLD progression.

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Area of Science:

  • Neuroscience
  • Biomarkers
  • Proteomics

Background:

  • Multiplex proteomics advances precision in Alzheimer's disease research.
  • Frontotemporal lobar degeneration (FTLD) research underutilizes blood-based proteomics.
  • Familial FTLD cohorts enable study of presymptomatic disease stages.

Purpose of the Study:

  • Identify blood-detectable proteins that change before symptom onset in familial FTLD.
  • Utilize NUcleic acid Linked Immuno-Sandwich Assay (NULISAseq) for presymptomatic FTLD biomarker discovery.
  • Investigate early molecular changes in C9orf72, GRN, and MAPT mutation carriers.

Main Methods:

  • 120 familial FTLD mutation carriers and 40 controls underwent blood draws and clinical assessment.
  • Targeted plasma proteomics performed using NULISAseq (132 proteins).
  • Disease age estimates used to identify protein divergence thresholds compared to controls; orthogonal assay validation performed.

Main Results:

  • Significant plasma protein divergence observed in C9orf72 (14 proteins), GRN (24 proteins), and MAPT (13 proteins) mutation carriers versus controls.
  • Synaptic and vascular integrity markers (NPTX2, NPTXR, PGF) diverged pre-symptomatically.
  • Gene-specific signals identified (e.g., GFAP in GRN, ENO2 in C9orf72, FLT1 in MAPT); NULISAseq targets showed concordance with Simoa and SomaScan.

Conclusions:

  • Plasma protein alterations are detectable in familial FTLD before predicted symptom onset.
  • NULISAseq targets demonstrate validity and brain relevance through convergence with Simoa and SomaScan assays.
  • Replication in larger cohorts is needed to confirm generalizability for clinical trials.