Presentation Category
Research
Introduction/Context/Diagnosis
Objectives This review delves into the intricate structural and functional roles of the endoplasmic reticulum (ER) in the context of congenital anomalies, encompassing conditions such as chondrodysplasias, congenital heart defects (CHD), and glycosylation mutations. Materials and Methods Searches within Google Scholar and PubMed databases were done using keywords "chondrodysplasias and ER stress", "maternal diabetes mellitus embryopathy and ER stress", and "UPR and birth defects". Systematic reviews, meta-analyses, and original studies were analyzed. The total of 23 articles published between the years 2012 and 2023 were reviewed. Results Dysregulation of protein folding in the ER, resulting in the accumulation of misfolded proteins, induces stress and has been implicated as a significant factor in the pathogenesis of congenital anomalies. In response to ER stress, cells activate the unfolded protein response (UPR), aimed at restoring ER homeostasis by reducing the amount of protein folding, enhancing the folding capacity of the ER, or degrading already misfolded proteins. Moreover, disruptions in UPR signaling pathways can also lead to structural malformations critical for embryonic development. Conclusions This literature review highlights the intricate relationship between the endoplasmic reticulum and congenital anomalies, shedding more light on the potential mechanisms underlying developmental abnormalities. Though many mechanisms within the endoplasmic reticulum have already been studied for a multitude of congenital anomalies, a deeper understanding of the molecular pathways is necessary to develop preventative and targeted therapies to improve the outcomes for affected individuals. Acknowledgements I would like to thank Dr. Tolarova and Dr. Tolar for guiding me in writing this literature review.
Location
Arthur A Dugoni School of Dentistry, 155 5th St, San Francisco, CA 94103, USA
Format
Presentation
The Role of Endoplasmic Reticulum in Pathogenesis of Congenital Anomalies
Arthur A Dugoni School of Dentistry, 155 5th St, San Francisco, CA 94103, USA
Objectives This review delves into the intricate structural and functional roles of the endoplasmic reticulum (ER) in the context of congenital anomalies, encompassing conditions such as chondrodysplasias, congenital heart defects (CHD), and glycosylation mutations. Materials and Methods Searches within Google Scholar and PubMed databases were done using keywords "chondrodysplasias and ER stress", "maternal diabetes mellitus embryopathy and ER stress", and "UPR and birth defects". Systematic reviews, meta-analyses, and original studies were analyzed. The total of 23 articles published between the years 2012 and 2023 were reviewed. Results Dysregulation of protein folding in the ER, resulting in the accumulation of misfolded proteins, induces stress and has been implicated as a significant factor in the pathogenesis of congenital anomalies. In response to ER stress, cells activate the unfolded protein response (UPR), aimed at restoring ER homeostasis by reducing the amount of protein folding, enhancing the folding capacity of the ER, or degrading already misfolded proteins. Moreover, disruptions in UPR signaling pathways can also lead to structural malformations critical for embryonic development. Conclusions This literature review highlights the intricate relationship between the endoplasmic reticulum and congenital anomalies, shedding more light on the potential mechanisms underlying developmental abnormalities. Though many mechanisms within the endoplasmic reticulum have already been studied for a multitude of congenital anomalies, a deeper understanding of the molecular pathways is necessary to develop preventative and targeted therapies to improve the outcomes for affected individuals. Acknowledgements I would like to thank Dr. Tolarova and Dr. Tolar for guiding me in writing this literature review.
Comments/Acknowledgements
Presentation Category: Research