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Targeted DNA Methylation Analysis by Next-generation Sequencing
Published on: February 24, 2015
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DNA Methylation Analysis of Turner Syndrome BAV
Jacob Gutierrez1, Brett A Davis1, Kimberly A Nevonen1
1Department of Medical Informatics and Clinical Epidemiology, Oregon Health and Science University, Portland, OR, United States.
Frontiers in Genetics
|June 17, 2022
Summary
Turner Syndrome (TS) is linked to bicuspid aortic valve (BAV) due to altered DNA methylation. This study identifies specific gene methylation patterns in TS patients with BAV, revealing key genetic factors contributing to heart defects in this population.
Area of Science:
- Genetics and Epigenetics
- Cardiovascular Biology
- Developmental Biology
Background:
- Turner Syndrome (TS) is a genetic disorder associated with a high incidence of congenital heart defects, particularly bicuspid aortic valve (BAV).
- BAV is the most common congenital heart defect in the general population and is also prevalent in individuals with TS.
- Altered DNA methylation patterns have been observed in TS and are implicated in BAV development in euploid individuals.
Purpose of the Study:
- To investigate DNA methylation differences associated with BAV in individuals with Turner Syndrome.
- To compare methylation patterns between TS patients with BAV, TS patients without heart defects, and non-syndromic BAV individuals.
- To identify specific genes and pathways involved in the increased risk of BAV in TS through epigenetic mechanisms.
Main Methods:
- Comparative analysis of DNA methylation patterns in peripheral blood samples.
- Groups studied included TS with BAV (n=12), TS with TAV (tricuspid aortic valve, n=13), and non-syndromic BAV (n=6).
- Utilized bioinformatics to identify differentially methylated regions and enriched transcription factor binding sites.
Main Results:
- Identified a differentially methylated region in the *MYRF* gene in TS patients with BAV compared to TS patients without heart defects.
- Found overlapping enrichment for transcription factor targets, including the *NOTCH1* pathway, in TS with BAV compared to euploid women with BAV.
- These findings suggest specific epigenetic alterations contribute to the high prevalence of BAV in Turner Syndrome.
Conclusions:
- Altered DNA methylation in peripheral blood reflects changes associated with BAV in Turner Syndrome.
- Epigenetic modifications affecting genes crucial for aortic valve development, such as *MYRF* and pathways like *NOTCH1*, contribute to the elevated BAV risk in TS.
- These findings highlight the role of epigenetics in the pathogenesis of congenital heart defects in genetic syndromes.
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