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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.
The essential diagnostic tools for detecting myocardial necrosis and monitoring individuals suspected of having acute coronary syndrome (ACS) include:
Troponins
Troponins, particularly cardiac troponins I and T, are the most precise and sensitive markers of myocardial injury. They are detectable within 4-6 hours of myocardial injury and remain...
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Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

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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.
These markers indicate stress or strain on the heart muscle:
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Cardiac myocytes produce these hormones in response to ventricular stretching...
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Related Experiment Video

Updated: Jan 7, 2026

Dried Blood Spot Collection of Health Biomarkers to Maximize Participation in Population Studies
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Biomarkers.

Haitian Nan1

  • 1Xuanwu Hospital, Capital Medical University, Beijing, China, Beijing, China.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 26, 2025
PubMed
Summary

This study reveals the genetic diversity in Chinese Frontotemporal Dementia (FTD) patients, identifying MAPT, GRN, and TBK1 as the most common causative genes. Findings highlight the extensive genetic and phenotypic heterogeneity within this population.

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Frontotemporal Dementia (FTD) is a neurodegenerative disorder with diverse genetic underpinnings.
  • Understanding the genetic landscape of FTD in Chinese populations is crucial for diagnosis and treatment.
  • Previous studies have not fully characterized the spectrum of FTD-related gene variants in this demographic.

Purpose of the Study:

  • To evaluate the genetic and phenotypic spectrum of Frontotemporal Dementia (FTD) gene variant carriers in Chinese populations.
  • To investigate mutation frequencies of FTD-related genes in China.
  • To assess the functional properties of TBK1 and OPTN variants in vitro.

Main Methods:

  • Genetic analysis of 410 Chinese FTD patients using exome sequencing, repeat-primed polymerase chain reaction, and Sanger sequencing.

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  • In vitro functional characterization of TBK1 and OPTN variants via immunofluorescence, immunoprecipitation, and immunoblotting.
  • Meta-analysis of existing literature to determine FTD gene frequencies in China.

    • Main Results:

    • 95 out of 410 (23.2%) Chinese FTD patients carried causative variants in FTD-related genes.
    • MAPT (21 cases), GRN (11 cases), and TBK1 (8 cases) were the most frequently mutated genes.
    • 52 novel variants were identified, expanding the known spectrum of FTD-associated mutations.

    Conclusions:

    • Chinese FTD patients exhibit significant genetic and phenotypic heterogeneity.
    • MAPT, GRN, and TBK1 are the predominant causative genes in the Chinese FTD population.
    • The identified novel variants contribute to a deeper understanding of FTD pathogenesis.