Genetically Modified Mouse Models of Congenital Diaphragmatic Hernia: Opportunities and Limitations for Studying Altered Lung Development

Frontiers in Pediatrics

article

Florian Friedmacher¹  Udo Rolle¹  Prem Puri² 

[1]Department of Pediatric Surgery, University Hospital Frankfurt, Goethe University Frankfurt

[2]Beacon Hospital, University College Dublin

[3]Conway Institute of Biomolecular and Biomedical Research, School of Medicine, University College Dublin

关键词: congenital diaphragmatic hernia;    diaphragm development;    lung development;    pulmonary hypoplasia;    pulmonary hypertension;    genetic model;    transgenic mice;    retinoic acid;   

DOI  :  10.3389/fped.2022.867307

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Congenital diaphragmatic hernia (CDH) is a relatively common and life-threatening birth defect, characterized by an abnormal opening in the primordial diaphragm that interferes with normal lung development. As a result, CDH is accompanied by immature and hypoplastic lungs, being the leading cause of morbidity and mortality in patients with this condition. In recent decades, various animal models have contributed novel insights into the pathogenic mechanisms underlying CDH and associated pulmonary hypoplasia. In particular, the generation of genetically modified mouse models, which show both diaphragm and lung abnormalities, has resulted in the discovery of multiple genes and signaling pathways involved in the pathogenesis of CDH. This article aims to offer an up-to-date overview on CDH-implicated transcription factors, molecules regulating cell migration and signal transduction as well as components contributing to the formation of extracellular matrix, whilst also discussing the significance of these genetic models for studying altered lung development with regard to the human situation.

【 授权许可】

CC BY