Related Experiment Video
Updated: Dec 17, 2025

Measurement of Differentially Methylated INS DNA Species in Human Serum Samples as a Biomarker of Islet β Cell Death
Published on: December 21, 2016
Cardiac-specific methylation patterns of circulating DNA for identification of cardiomyocyte death
1Cardiac center, Guangdong Women and Children Hospital, Guangzhou, 511400, China.
Insights
Detecting heart cell death is crucial for cardiovascular disease management. This study introduces a novel method using cell-free DNA (cf-DNA) methylation patterns for accurate monitoring of myocardial death.
Area of Science:
- Cardiovascular Biology
- Molecular Diagnostics
- Genetics
Background:
- Accurate detection of cardiomyocyte death is vital for diagnosing and managing cardiovascular diseases.
- Current diagnostic methods for myocardial death have limitations.
- Developing novel biomarkers for cardiomyocyte death is essential.
Purpose of the Study:
- To develop a new approach for monitoring myocardial death using methylation patterns of circulating cell-free DNA (cf-DNA).
- To investigate the potential of cf-DNA methylation as a biomarker for cardiomyocyte death.
Main Methods:
- Examined methylation status of FAM101A in heart tissue and blood using quantitative methylation-sensitive PCR (qMS-PCR).
- Investigated concentrations and kinetics of cardiac cf-DNA in plasma from children with congenital heart disease (CHD) before and after cardiac surgery.
- Correlated cardiac cf-DNA concentrations with plasma troponin levels.
Main Results:
- Identified demethylated FAM101A specifically in heart tissue.
- Observed a rapid increase in plasma cardiac cf-DNA post-cardiac surgery, peaking at 4-6 hours, followed by a progressive decrease.
- Found a close correlation between cardiac cf-DNA concentrations and plasma troponin levels.
Conclusions:
- Proposed a novel strategy for detecting cardiomyocyte death based on plasma cf-DNA with a cardiac-specific methylation signature.
- This pilot study may pave the way for new diagnostic tests for human cardiac pathologies.
- Circulating cf-DNA methylation patterns offer a promising non-invasive approach for monitoring myocardial death.
Background:
Correct detection of human cardiomyocyte death is essential for definitive diagnosis and appropriate management of cardiovascular diseases. Although current strategies have proven utility in clinical cardiology, they have some limitations. Our aim was to develop a new approach to monitor myocardial death using methylation patterns of circulating cell-free DNA (cf-DNA).
Methods:
We first examined the methylation status of FAM101A in heart tissue and blood of individual donors using quantitative methylation-sensitive PCR (qMS-PCR). The concentrations and kinetics of cardiac cf-DNA in plasma from five congenital heart disease (CHD) children before and after they underwent cardiac surgery at serial time points were then investigated.
Results:
We identified demethylated FAM101A specifically present in heart tissue. Importantly, our time course experiments demonstrated that the plasma cardiac cf-DNA level increased quickly during the early post-cardiac surgery phase, peaking at 4-6 h, decreased progressively (24 h) and returned to baseline (72 h). Moreover, cardiac cf-DNA concentrations pre- and post-operation were closely correlated with plasma troponin levels.
Conclusions:
We proposed a novel strategy for the correct detection of cardiomyocyte death, based on analysis of plasma cf-DNA carrying the cardiac-specific methylation signature. Our pilot study may lead to new tests for human cardiac pathologies.

