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Global DNA Methylation as a Potential Underlying Mechanism of Congenital Disease Development

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2020
Stanković_2020_GlobalDNAMethylation (364.3Kb)
Authors
Stanković, Aleksandra
Book part (Published version)
,
© 2020 The Author(s).
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Abstract
During the last decade, quantitative measurement of the methylation status in white blood cells (WBCs) has been used as a potential biomarker in a variety of diseases. Long interspersed nucleotide element-1 (LINE-1) has been used widely as a surrogate marker of global DNA methylation. Altered maternal DNA methylation is suggested to be an underlying mechanism in the trisomy 21 and the development of birth defects, including congenital heart defects (CHDs). The molecular mechanisms that underlie the epigenetic regulation of gene transcription are independent of DNA sequence, but they do depend on environmental stimuli, which are especially important in fetal development in utero environment. Folic acid deficiency and genetic variations of folate pathway genes, such as the methylenetetrahydrofolate reductase gene (MTHFR), are foremost among these maternal risk factors. Also, there are exogenous risk factors (cigarette smoking, alcohol intake, medication use, periconceptional maternal sup...plementation, body mass index, and dietary habits) with impact on maternal LINE-1 methylation. MTHFR C677T genotype/diet and other environmental factors as significant predictors of LINE-1 DNA methylation in regard to congenital diseases will be discussed in the chapter.

Keywords:
DNA methylation / LINE-1 / congenital anomaly / development / nutrition / folate intake / genotype
Source:
DNA Methylation Mechanism, 2020, Ch. 3, 1-21
Publisher:
  • IntechOpen
Funding / projects:
  • Genetic basis of human vascular and inflammatory diseases (RS-175085)
Note:
  • Chapter of the book "DNA Methylation Mechanism" https://dx.doi.org/10.5772/intechopen.78125

DOI: 10.5772/intechopen.90996

[ Google Scholar ]
URI
https://vinar.vin.bg.ac.rs/handle/123456789/8682
Collections
  • Radovi istraživača
Institution/Community
Vinča
TY  - CHAP
AU  - Stanković, Aleksandra
PY  - 2020
UR  - https://vinar.vin.bg.ac.rs/handle/123456789/8682
AB  - During the last decade, quantitative measurement of the methylation status in white blood cells (WBCs) has been used as a potential biomarker in a variety of diseases. Long interspersed nucleotide element-1 (LINE-1) has been used widely as a surrogate marker of global DNA methylation. Altered maternal DNA methylation is suggested to be an underlying mechanism in the trisomy 21 and the development of birth defects, including congenital heart defects (CHDs). The molecular mechanisms that underlie the epigenetic regulation of gene transcription are independent of DNA sequence, but they do depend on environmental stimuli, which are especially important in fetal development in utero environment. Folic acid deficiency and genetic variations of folate pathway genes, such as the methylenetetrahydrofolate reductase gene (MTHFR), are foremost among these maternal risk factors. Also, there are exogenous risk factors (cigarette smoking, alcohol intake, medication use, periconceptional maternal supplementation, body mass index, and dietary habits) with impact on maternal LINE-1 methylation. MTHFR C677T genotype/diet and other environmental factors as significant predictors of LINE-1 DNA methylation in regard to congenital diseases will be discussed in the chapter.
PB  - IntechOpen
T2  - DNA Methylation Mechanism
T1  - Global DNA Methylation as a Potential Underlying Mechanism of Congenital Disease Development
VL  - Ch. 3
SP  - 1
EP  - 21
DO  - 10.5772/intechopen.90996
ER  - 
@inbook{
author = "Stanković, Aleksandra",
year = "2020",
abstract = "During the last decade, quantitative measurement of the methylation status in white blood cells (WBCs) has been used as a potential biomarker in a variety of diseases. Long interspersed nucleotide element-1 (LINE-1) has been used widely as a surrogate marker of global DNA methylation. Altered maternal DNA methylation is suggested to be an underlying mechanism in the trisomy 21 and the development of birth defects, including congenital heart defects (CHDs). The molecular mechanisms that underlie the epigenetic regulation of gene transcription are independent of DNA sequence, but they do depend on environmental stimuli, which are especially important in fetal development in utero environment. Folic acid deficiency and genetic variations of folate pathway genes, such as the methylenetetrahydrofolate reductase gene (MTHFR), are foremost among these maternal risk factors. Also, there are exogenous risk factors (cigarette smoking, alcohol intake, medication use, periconceptional maternal supplementation, body mass index, and dietary habits) with impact on maternal LINE-1 methylation. MTHFR C677T genotype/diet and other environmental factors as significant predictors of LINE-1 DNA methylation in regard to congenital diseases will be discussed in the chapter.",
publisher = "IntechOpen",
journal = "DNA Methylation Mechanism",
booktitle = "Global DNA Methylation as a Potential Underlying Mechanism of Congenital Disease Development",
volume = "Ch. 3",
pages = "1-21",
doi = "10.5772/intechopen.90996"
}
Stanković, A.. (2020). Global DNA Methylation as a Potential Underlying Mechanism of Congenital Disease Development. in DNA Methylation Mechanism
IntechOpen., Ch. 3, 1-21.
https://doi.org/10.5772/intechopen.90996
Stanković A. Global DNA Methylation as a Potential Underlying Mechanism of Congenital Disease Development. in DNA Methylation Mechanism. 2020;Ch. 3:1-21.
doi:10.5772/intechopen.90996 .
Stanković, Aleksandra, "Global DNA Methylation as a Potential Underlying Mechanism of Congenital Disease Development" in DNA Methylation Mechanism, Ch. 3 (2020):1-21,
https://doi.org/10.5772/intechopen.90996 . .

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