scholarly journals Diabetes, Oxidative Stress, and DNA Damage Modulate Cranial Neural Crest Cell Development and the Phenotype Variability of Craniofacial Disorders

Author(s):  
Sharien Fitriasari ◽  
Paul A. Trainor

Craniofacial malformations are among the most common birth defects in humans and they often have significant detrimental functional, aesthetic, and social consequences. To date, more than 700 distinct craniofacial disorders have been described. However, the genetic, environmental, and developmental origins of most of these conditions remain to be determined. This gap in our knowledge is hampered in part by the tremendous phenotypic diversity evident in craniofacial syndromes but is also due to our limited understanding of the signals and mechanisms governing normal craniofacial development and variation. The principles of Mendelian inheritance have uncovered the etiology of relatively few complex craniofacial traits and consequently, the variability of craniofacial syndromes and phenotypes both within families and between families is often attributed to variable gene expression and incomplete penetrance. However, it is becoming increasingly apparent that phenotypic variation is often the result of combinatorial genetic and non-genetic factors. Major non-genetic factors include environmental effectors such as pregestational maternal diabetes, which is well-known to increase the risk of craniofacial birth defects. The hyperglycemia characteristic of diabetes causes oxidative stress which in turn can result in genotoxic stress, DNA damage, metabolic alterations, and subsequently perturbed embryogenesis. In this review we explore the importance of gene-environment associations involving diabetes, oxidative stress, and DNA damage during cranial neural crest cell development, which may underpin the phenotypic variability observed in specific craniofacial syndromes.

2011 ◽  
Vol 356 (1) ◽  
pp. 197
Author(s):  
Dennis A. Ridenour ◽  
Rebecca McLennan ◽  
Jessica M. Teddy ◽  
Katherine W. Prather ◽  
Craig L. Semerad ◽  
...  

2018 ◽  
Vol 154 ◽  
pp. 170-178 ◽  
Author(s):  
Juan Ignacio Leal ◽  
Soraya Villaseca ◽  
Andrea Beyer ◽  
Gabriela Toro-Tapia ◽  
Marcela Torrejón

Development ◽  
1977 ◽  
Vol 39 (1) ◽  
pp. 267-271
Author(s):  
John R. Hassell ◽  
Judith H. Greenberg ◽  
Malcolm C. Johnston

Chick embryos at stage 8, prior to neural crest cell migration, were explanted on whole egg medium with or without vitamin A and cultured for 3 days. Sections through the head regions showed that the cranial neural crest cells had migrated into the first visceral arch in the controls but were absent from this structure in the treated embryos. These observations suggest that vitamin A inhibits neural crest cell development or migration, an effect which may in part account for the facial malformations produced by excess vitamin A.


2020 ◽  
Vol 34 (S1) ◽  
pp. 1-1
Author(s):  
Walid D. Fakhouri ◽  
Jessica Wildgrube Bertol ◽  
Victoria K. Xie ◽  
Shelby Johnston ◽  
Kelsea Hubka ◽  
...  

PLoS ONE ◽  
2015 ◽  
Vol 10 (6) ◽  
pp. e0131768 ◽  
Author(s):  
Bernd Willems ◽  
Shijie Tao ◽  
Tingsheng Yu ◽  
Ann Huysseune ◽  
Paul Eckhard Witten ◽  
...  

2012 ◽  
Vol 21 (17) ◽  
pp. 3069-3080 ◽  
Author(s):  
Mamoru Ishii ◽  
Athena C. Arias ◽  
Liqiong Liu ◽  
Yi-Bu Chen ◽  
Marianne E. Bronner ◽  
...  

2013 ◽  
Vol 383 (2) ◽  
pp. 186-200 ◽  
Author(s):  
Sophie Wiszniak ◽  
Samuela Kabbara ◽  
Rachael Lumb ◽  
Michaela Scherer ◽  
Genevieve Secker ◽  
...  

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