Connecting clinical, environmental, and genetic factors point to an essential role for vitamin A signaling in the pathogenesis of congenital diaphragmatic hernia

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Author(s)Gilbert, Rachel M.
Author(s)Gleghorn, and Jason P.
Date Accessioned2023-04-18T19:14:15Z
Date Available2023-04-18T19:14:15Z
Publication Date2023-04-01
DescriptionThis article was originally published in American Journal of Physiology - Lung Cellular and Molecular Physiology. The version of record is available at: https://doi.org/10.1152/ajplung.00349.2022. This article will be embargoed until 04/01/2024.
AbstractCongenital diaphragmatic hernia (CDH) is a developmental disorder that results in incomplete diaphragm formation, pulmonary hypoplasia, and pulmonary hypertension. Although a variety of genes have been linked to its etiology, CDH is not a monogenetic disease, and the cause of the condition is still unclear in the vast majority of clinical cases. By comparing human clinical data and experimental rodent data from the literature, we present clear support demonstrating the importance of vitamin A (vitA) during the early window of pregnancy when the diaphragm and lung are forming. Alteration of vitA signaling via dietary and genetic perturbations can create diaphragmatic defects. Unfortunately, vitA deficiency is chronic among people of child-bearing age, and this early window of diaphragm development occurs before many might be aware of pregnancy. Furthermore, there is an increased demand for vitA during this critical period, which exacerbates the likelihood of deficiency. It would be beneficial for the field to further investigate the connections between maternal vitA and CDH incidence, with the goal of determining vitA status as a CDH risk factor. Regular clinical monitoring of vitA levels in child-bearing years is a tractable method by which CDH outcomes could be prevented or improved.
SponsorThis work was supported by National Institutes of Health Grants R01HL133163, R01HL145147, R21ES027962, and F31HL140781 (to R. M. Gilbert).
CitationGilbert, Rachel M., and Jason P. Gleghorn. “Connecting Clinical, Environmental, and Genetic Factors Point to an Essential Role for Vitamin A Signaling in the Pathogenesis of Congenital Diaphragmatic Hernia.” American Journal of Physiology-Lung Cellular and Molecular Physiology 324, no. 4 (April 1, 2023): L456–67. https://doi.org/10.1152/ajplung.00349.2022.
ISSN1522-1504
URLhttps://udspace.udel.edu/handle/19716/32659
Languageen_US
PublisherAmerican Journal of Physiology - Lung Cellular and Molecular Physiology
Keywordsdevelopment
Keywordsmaternal fetal health
Keywordspregnancy
Keywordspulmonary hypoplasia
Keywordsretinol
TitleConnecting clinical, environmental, and genetic factors point to an essential role for vitamin A signaling in the pathogenesis of congenital diaphragmatic hernia
TypeArticle
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