Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective?
Neural tube defects (NTDs) are complex congenital malformations resulting from failure of neural tube closure during embryogenesis, which is affected by the interaction of genetic and environmental factors. It is well known that folate deficiency increases the incidence of NTDs; however, the underly...
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| Format: | Article |
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MDPI AG
2023-01-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/3/2220 |
| _version_ | 1797624372555415552 |
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| author | Xiuwei Wang Jialu Yu Jianhua Wang |
| author_facet | Xiuwei Wang Jialu Yu Jianhua Wang |
| author_sort | Xiuwei Wang |
| collection | DOAJ |
| description | Neural tube defects (NTDs) are complex congenital malformations resulting from failure of neural tube closure during embryogenesis, which is affected by the interaction of genetic and environmental factors. It is well known that folate deficiency increases the incidence of NTDs; however, the underlying mechanism remains unclear. Folate deficiency not only causes DNA hypomethylation, but also blocks the synthesis of 2′-deoxythymidine-5′–monophosphate (dTMP) and increases uracil misincorporation, resulting in genomic instabilities such as base mismatch, DNA breakage, and even chromosome aberration. DNA repair pathways are essential for ensuring normal DNA synthesis, genomic stability and integrity during embryonic neural development. Genomic instability or lack of DNA repair has been implicated in risk of development of NTDs. Here, we reviewed the relationship between folate deficiency, DNA repair pathways and NTDs so as to reveal the role and significance of DNA repair system in the pathogenesis of NTDs and better understand the pathogenesis of NTDs. |
| first_indexed | 2024-03-11T09:41:28Z |
| format | Article |
| id | doaj.art-03ce64546097479ab07077cc089e34fb |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T09:41:28Z |
| publishDate | 2023-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-03ce64546097479ab07077cc089e34fb2023-11-16T16:54:05ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-01-01243222010.3390/ijms24032220Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective?Xiuwei Wang0Jialu Yu1Jianhua Wang2Beijing Municipal Key Laboratory of Child Development and Nutriomics, Translational Medicine Laboratory, Capital Institute of Pediatrics, Beijing 100020, ChinaBeijing Municipal Key Laboratory of Child Development and Nutriomics, Translational Medicine Laboratory, Capital Institute of Pediatrics, Beijing 100020, ChinaBeijing Municipal Key Laboratory of Child Development and Nutriomics, Translational Medicine Laboratory, Capital Institute of Pediatrics, Beijing 100020, ChinaNeural tube defects (NTDs) are complex congenital malformations resulting from failure of neural tube closure during embryogenesis, which is affected by the interaction of genetic and environmental factors. It is well known that folate deficiency increases the incidence of NTDs; however, the underlying mechanism remains unclear. Folate deficiency not only causes DNA hypomethylation, but also blocks the synthesis of 2′-deoxythymidine-5′–monophosphate (dTMP) and increases uracil misincorporation, resulting in genomic instabilities such as base mismatch, DNA breakage, and even chromosome aberration. DNA repair pathways are essential for ensuring normal DNA synthesis, genomic stability and integrity during embryonic neural development. Genomic instability or lack of DNA repair has been implicated in risk of development of NTDs. Here, we reviewed the relationship between folate deficiency, DNA repair pathways and NTDs so as to reveal the role and significance of DNA repair system in the pathogenesis of NTDs and better understand the pathogenesis of NTDs.https://www.mdpi.com/1422-0067/24/3/2220neural tube defectsDNA damageDNA repairfolate |
| spellingShingle | Xiuwei Wang Jialu Yu Jianhua Wang Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective? International Journal of Molecular Sciences neural tube defects DNA damage DNA repair folate |
| title | Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective? |
| title_full | Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective? |
| title_fullStr | Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective? |
| title_full_unstemmed | Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective? |
| title_short | Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective? |
| title_sort | neural tube defects and folate deficiency is dna repair defective |
| topic | neural tube defects DNA damage DNA repair folate |
| url | https://www.mdpi.com/1422-0067/24/3/2220 |
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