DNA methylation signatures on vascular differentiation genes are aberrant in vessels of human cerebral arteriovenous malformation nidus
| العنوان: | DNA methylation signatures on vascular differentiation genes are aberrant in vessels of human cerebral arteriovenous malformation nidus |
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| المؤلفون: | Jaya Mary, Thomas, Dhakshmi, Sasankan, Mathew, Abraham, Sumi, Surendran, Chandrasekharan C, Kartha, Arumugam, Rajavelu |
| المصدر: | Clinical Epigenetics. 14 |
| بيانات النشر: | Springer Science and Business Media LLC, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Intracranial Arteriovenous Malformations, Hemodynamics, Genetics, Humans, DNA, DNA Methylation, Molecular Biology, Chromatin, Genetics (clinical), Developmental Biology |
| الوصف: | Arteriovenous malformation (AVM) is a tangle of arteries and veins, rupture of which can result in catastrophic hemorrhage in vulnerable sites such as the brain. Cerebral AVM is associated with a high mortality rate in humans. The causative factor or the stimulus at the artery-venous junction and the molecular basis of the development and progression of cerebral AVM remain unknown. While it is known that aberrant hemodynamic forces in the artery-vein junction contribute to the development of AVMs, the mechanistic pathways are unclear. Given that various environmental stimuli modulate epigenetic modifications on the chromatin of cells, we speculated that misregulated DNA methylome could lead to cerebral AVM development. To identify the aberrant epigenetic signatures, we used AVM nidus tissues and analyzed the global DNA methylome using the Infinium DNA methylome array. We observed significant alterations of DNA methylation in the genes associated with the vascular developmental pathway. Further, we validated the DNA hypermethylation by DNA bisulfite sequencing analysis of selected genes from human cerebral AVM nidus. Taken together, we provide the first experimental evidence for aberrant epigenetic signatures on the genes of vascular development pathway, in human cerebral AVM nidus. |
| تدمد: | 1868-7083 1868-7075 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c063d0b9dd6b0ee14942c60e7aa8eaaTest https://doi.org/10.1186/s13148-022-01346-zTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8c063d0b9dd6b0ee14942c60e7aa8eaa |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18687083 18687075 |
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