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Placental methylome analysis from a prospective autism study
Diane I Schroeder1, Rebecca J Schmidt2, Florence K Crary-Dooley1
1Department of Medical Microbiology and Immunology, Genome Center, Davis, CA 95616 USA.
Molecular Autism
|December 27, 2016
Summary
Placental DNA methylation patterns may serve as early autism spectrum disorder (ASD) biomarkers. A specific highly methylated domain near the DLL1 gene showed significantly higher methylation in ASD cases, suggesting the placenta
Area of Science:
- Epigenetics and Neurodevelopmental Disorders
- Genomic Methylation Analysis
- Biomarker Discovery
Background:
- Autism spectrum disorders (ASD) are neurodevelopmental conditions diagnosed behaviorally in early childhood.
- Complex genetic and environmental factors contribute to ASD, with epigenetic DNA methylation marks potentially serving as risk biomarkers.
- The placenta, with its unique methylation patterns (PMDs and HMDs), may reflect early embryonic methylation and act as a surrogate tissue.
Purpose of the Study:
- To investigate human term placentas for DNA methylation patterns relevant to autism spectrum disorder (ASD) risk.
- To assess the utility of placental partially methylated domains (PMDs) and highly methylated domains (HMDs) in identifying methylation differences associated with ASD.
- To explore the placenta as a potential surrogate tissue for early ASD biomarker detection.
Main Methods:
- Whole genome bisulfite sequencing was performed on human term placental samples from the MARBLES prospective study.
- Analysis focused on methylation patterns within partially methylated domains (PMDs) and highly methylated domains (HMDs).
- Placental methylation differences were compared between infants diagnosed with ASD (n=24) and typically developing (TD) infants (n=23).
Main Results:
- Human placental methylomes exhibit reproducible PMD and HMD locations, with greater individual variability in PMD methylation levels.
- A significant finding was a highly methylated domain (HMD) near the DLL1 gene, showing significantly higher methylation in ASD cases.
- This specific HMD region was validated as a potential biomarker for ASD through pyrosequencing.
Conclusions:
- The placenta demonstrates potential as an informative surrogate tissue for identifying predictive biomarkers of autism spectrum disorder (ASD).
- Epigenetic signatures in placental tissue may aid in early ASD risk assessment, particularly in high-risk families.
- Further research into placental methylation could enhance early detection and intervention strategies for ASD.
