Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy

@article{Schulze2019AberrantDM,
  title={Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy},
  author={Katharina V. Schulze and Amit R. Bhatt and Mahshid S Azamian and Nathan C. Sundgren and Gladys E. Zapata and Patricia P Hernandez and Karin Anneliese Fox and Jeffrey R. Kaiser and John W. Belmont and Neil A. Hanchard},
  journal={Genetics in Medicine},
  year={2019},
  pages={1-9}
}
PurposeMaternal diabetes is a known teratogen that can cause a wide spectrum of birth defects, collectively referred to as diabetic embryopathy (DE). However, the pathogenic mechanisms underlying DE remain uncertain and there are no definitive tests to establish the diagnosis. Here, we explore the potential of DNA methylation as a diagnostic biomarker for DE and to inform disease pathogenesis.MethodsBisulfite sequencing was used to identify gene regions with differential methylation between DE… 
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References

SHOWING 1-10 OF 46 REFERENCES
Mosaic Epigenetic Dysregulation of Ectodermal Cells in Autism Spectrum Disorder
TLDR
It is concluded that epigenetic dysregulation occurring in gametes or early embryonic life may be one of the contributors to the development of ASD.
NSD1 mutations generate a genome-wide DNA methylation signature
TLDR
It is proposed that pathogenic NSD1 mutations have a genome-wide impact on the most stable epigenetic mark, DNA methylation (DNAm), and by interrogating DNAm in SS patients, this work identifies a highly specific and sensitive NSD 1+/− signature, which encompasses genes that function in cellular morphogenesis and neuronal differentiation, reflecting cardinal features of the SS phenotype.
Epigenetic signatures of gestational diabetes mellitus on cord blood methylation
TLDR
An association between maternal GDM and the epigenetic status of the exposed offspring is supported, consistent with a multifactorial disease model, and the observed FCB methylation changes are of small effect size but affect multiple genes/loci.
Gestational diabetes mellitus epigenetically affects genes predominantly involved in metabolic diseases
TLDR
It is suggested that GDM has epigenetic effects on genes preferentially involved in the metabolic diseases pathway, with consequences on fetal growth and development, and supportive evidence that DNA methylation is involved in fetal metabolic programming is provided.
DNA methylation as a predictor of fetal alcohol spectrum disorder
TLDR
Findings further support the association of FASD with distinct DNA methylation patterns, while providing a possible entry point towards the development of epigenetic biomarkers of FasD.
Exposure to Maternal Diabetes in Utero and DNA Methylation Patterns in the Offspring.
TLDR
Increased methylation of PYGO1 and CLN8 may be biological links between intrauterine exposure to maternal diabetes and significantly increased VCAM-1 levels in the offspring, and the UPS was identified as the most enriched biological pathway.
Maternal gestational diabetes is associated with genome-wide DNA methylation variation in placenta and cord blood of exposed offspring.
TLDR
Replication studies should integrate genomics and transcriptomics with longitudinal sampling to elucidate stability, determine causality for translation into biomarker and prevention studies, and integrateGenetic variation in foetal tissue may have a mechanistic role in metabolic disease programming through interaction of the pregnancy environment with gene function.
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
TLDR
This study describes an inherited global developmental delay phenotype associated with a frameshift deletion in TRIO, a gene recently implicated in neurodevelopmental delay, and functionally validate the importance of the GEF domain in Trio protein function.
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