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Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates

Intraventricular hemorrhage (IVH) of the preterm neonate is a complex developmental disorder, with contributions from both the environment and the genome. IVH, or hemorrhage into the germinal matrix of the developing brain with secondary periventricular infarction, occurs in that critical period of...

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Autores principales: Ment, Laura R., Ådén, Ulrika, Lin, Aiping, Kwon, Soo Hyun, Choi, Murim, Hallman, Mikko, Lifton, Richard P., Zhang, Heping, Bauer, Charles R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946468/
https://www.ncbi.nlm.nih.gov/pubmed/24192699
http://dx.doi.org/10.1038/pr.2013.195
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author Ment, Laura R.
Ådén, Ulrika
Lin, Aiping
Kwon, Soo Hyun
Choi, Murim
Hallman, Mikko
Lifton, Richard P.
Zhang, Heping
Bauer, Charles R.
author_facet Ment, Laura R.
Ådén, Ulrika
Lin, Aiping
Kwon, Soo Hyun
Choi, Murim
Hallman, Mikko
Lifton, Richard P.
Zhang, Heping
Bauer, Charles R.
author_sort Ment, Laura R.
collection PubMed
description Intraventricular hemorrhage (IVH) of the preterm neonate is a complex developmental disorder, with contributions from both the environment and the genome. IVH, or hemorrhage into the germinal matrix of the developing brain with secondary periventricular infarction, occurs in that critical period of time before the 32(nd) – 33(rd) week post-conception and has been attributed to changes in cerebral blood flow to the immature germinal matrix microvasculature. Emerging data suggest that genes subserving coagulation, inflammatory and vascular pathways, and their interactions with environmental triggers may influence both the incidence and severity of cerebral injury and are the subject of this review. Polymorphisms in the Factor V Leiden gene are associated with the atypical timing of IVH suggesting an as yet unknown environmental trigger. The methylenetetra-hydrofolate reeducates (MTHFR) variants render neonates more vulnerable to cerebral injury in the presence of perinatal hypoxia. The present study demonstrates that the MTHFR 677C>T polymorphism and low 5 minute Apgar score additively increase the risk of IVH. Finally, review of published preclinical data suggests the stressors of delivery result in hemorrhage in the presence of mutations in collagen 4A1 (COL4A1), a major structural protein of the developing cerebral vasculature. Maternal genetics and fetal environment may also play a role.
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spelling pubmed-39464682014-07-01 Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates Ment, Laura R. Ådén, Ulrika Lin, Aiping Kwon, Soo Hyun Choi, Murim Hallman, Mikko Lifton, Richard P. Zhang, Heping Bauer, Charles R. Pediatr Res Article Intraventricular hemorrhage (IVH) of the preterm neonate is a complex developmental disorder, with contributions from both the environment and the genome. IVH, or hemorrhage into the germinal matrix of the developing brain with secondary periventricular infarction, occurs in that critical period of time before the 32(nd) – 33(rd) week post-conception and has been attributed to changes in cerebral blood flow to the immature germinal matrix microvasculature. Emerging data suggest that genes subserving coagulation, inflammatory and vascular pathways, and their interactions with environmental triggers may influence both the incidence and severity of cerebral injury and are the subject of this review. Polymorphisms in the Factor V Leiden gene are associated with the atypical timing of IVH suggesting an as yet unknown environmental trigger. The methylenetetra-hydrofolate reeducates (MTHFR) variants render neonates more vulnerable to cerebral injury in the presence of perinatal hypoxia. The present study demonstrates that the MTHFR 677C>T polymorphism and low 5 minute Apgar score additively increase the risk of IVH. Finally, review of published preclinical data suggests the stressors of delivery result in hemorrhage in the presence of mutations in collagen 4A1 (COL4A1), a major structural protein of the developing cerebral vasculature. Maternal genetics and fetal environment may also play a role. 2013-11-05 2014-01 /pmc/articles/PMC3946468/ /pubmed/24192699 http://dx.doi.org/10.1038/pr.2013.195 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Ment, Laura R.
Ådén, Ulrika
Lin, Aiping
Kwon, Soo Hyun
Choi, Murim
Hallman, Mikko
Lifton, Richard P.
Zhang, Heping
Bauer, Charles R.
Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates
title Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates
title_full Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates
title_fullStr Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates
title_full_unstemmed Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates
title_short Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates
title_sort gene-environment interactions in severe intraventricular hemorrhage of preterm neonates
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946468/
https://www.ncbi.nlm.nih.gov/pubmed/24192699
http://dx.doi.org/10.1038/pr.2013.195
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