Genome-wide DNA Methylation Profiling of Blood from Monozygotic Twins Discordant for Myocardial Infarction

In Vivo. 2020 Jan-Feb;34(1):361-367. doi: 10.21873/invivo.11782.

Abstract

Background/aim: This study aimed to measure the DNA methylation state of thousands of CpG islands in the blood of two monozygotic twins that were discordant for cardiovascular disease (CVD). Twin 1 had suffered myocardial infarction, while the other was healthy.

Patients and methods: Since the aim of this study was to identify differentially methylated regions which might act as potential markers, reduced-representation bisulfite libraries were used for whole-genome methylation analysis.

Results: According to the analysis, 11 genes lipid droplet associated hydrolase (LDAH), apolipoprotein B (APOB), acyl-CoA synthetase medium chain family member 2A (ACSM2A), acyl-CoA synthetase medium chain family member 5(ACSM5), acyl-CoA synthetase family member 3 (ACSF3), carboxylesterase 1 (CES1), carboxylesterase 1 pseudogene 1 (CES1P1), AFG3 like matrix AAA peptidase subunit 2 (AFG3L2), iron-sulfur cluster assembly enzyme (ISCU), SEC14 like lipid binding 2 (SEC14L2) and microsomal triglyceride transfer protein (MTTP) were all hypomethylated in DNA from twin 2, the unaffected twin. Methylation changes were observed at different multiple loci between the twins, suggesting loci that are affected by disease status in identical genetic backgrounds.

Conclusion: This twin study may contribute significantly to the understanding of the genetic basis of CVD and resulting myocardial infarction. This approach may allow identification of possible target loci associated with aberrant epigenetic regulation in CVD.

Keywords: Cardiovascular disease; DNA methylation; epigenetics.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • DNA Methylation*
  • Epigenesis, Genetic
  • Gene Expression Profiling*
  • Gene Expression Regulation*
  • Genetic Markers*
  • Genome, Human*
  • Humans
  • Male
  • Myocardial Infarction / blood
  • Myocardial Infarction / genetics*
  • Phenotype
  • Prognosis
  • Promoter Regions, Genetic
  • Twins, Monozygotic / genetics*

Substances

  • Genetic Markers