Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation

Nature Communications
Daisuke SakaiP A Trainor

Abstract

Craniofacial anomalies account for approximately one-third of all birth defects and are a significant cause of infant mortality. Since the majority of the bones, cartilage and connective tissues that comprise the head and face are derived from a multipotent migratory progenitor cell population called the neural crest, craniofacial disorders are typically attributed to defects in neural crest cell development. Treacher Collins syndrome (TCS) is a disorder of craniofacial development and although TCS arises primarily through autosomal dominant mutations in TCOF1, no clear genotype-phenotype correlation has been documented. Here we show that Tcof1 haploinsufficiency results in oxidative stress-induced DNA damage and neuroepithelial cell death. Consistent with this discovery, maternal treatment with antioxidants minimizes cell death in the neuroepithelium and substantially ameliorates or prevents the pathogenesis of craniofacial anomalies in Tcof1(+/-) mice. Thus maternal antioxidant dietary supplementation may provide an avenue for protection against the pathogenesis of TCS and similar neurocristopathies.

References

Apr 1, 1987·Archives of Biochemistry and Biophysics·D Ewing, S R Jones
Mar 29, 2000·The Journal of Biological Chemistry·E P RogakouW M Bonner
Sep 12, 2000·Molecular Biology of the Cell·C IsaacU T Meier
Dec 14, 2001·FEBS Letters·D J Leary, S Huang
Nov 7, 2002·Current Biology : CB·Junya KobayashiKenshi Komatsu
Feb 28, 2003·Nature·Michal GoldbergStephen P Jackson
Feb 28, 2003·Nature·Grant S StewartStephen J Elledge
May 23, 2003·Cold Spring Harbor Symposia on Quantitative Biology·T Lindahl, D E Barnes
Mar 26, 2004·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Jill Dixon, Michael James Dixon
Jul 14, 2004·Proceedings of the National Academy of Sciences of the United States of America·Benigno C ValdezMichael J Dixon
Jul 29, 2004·DNA Repair·Junya KobayashiKenshi Komatsu
Jul 29, 2004·DNA Repair·Ari Barzilai, Ken-Ichi Yamamoto
Aug 17, 2004·Chromosoma·Nora Assenmacher, Karl-Peter Hopfner
Apr 12, 2005·Nature Medicine·Pierre-Olivier FrappartZhao-Qi Wang
Oct 29, 2005·Brain, Behavior and Evolution·Paul A Trainor
Jun 29, 2006·Annual Review of Cell and Developmental Biology·Jennifer F Crane, Paul A Trainor
Aug 30, 2006·Proceedings of the National Academy of Sciences of the United States of America·Jill DixonPaul A Trainor
Jan 24, 2007·Physiological Reviews·Karen Bedard, Karl-Heinz Krause
Apr 5, 2007·Nature Protocols·Peggy L Olive, Judit P Banáth
May 16, 2007·The Biochemical Journal·Lena SerranderKarl-Heinz Krause
May 26, 2007·Science·Bijan SobhianRoger A Greenberg
Aug 19, 2007·Cell Cycle·Sachin Katyal, Peter J McKinnon
Sep 25, 2007·Annual Review of Genomics and Human Genetics·Peter J McKinnon, Keith W Caldecott
Dec 25, 2008·European Journal of Human Genetics : EJHG·Paul A TrainorMichael J Dixon

❮ Previous
Next ❯

Citations

Jun 28, 2016·Human Molecular Genetics·Cynthia L NebenOphir D Klein
Feb 12, 2017·Wiley Interdisciplinary Reviews. Developmental Biology·Karla TerrazasMichael J Dixon
May 24, 2017·Journal of Dental Research·A H Al-AniM Farella
Jan 10, 2018·Frontiers in Physiology·Theodosia N BartzelaJaap C Maltha
Oct 16, 2018·Wiley Interdisciplinary Reviews. Developmental Biology·Hiroshi Kurosaka
Jan 10, 2019·Journal of Molecular Cell Biology·Margot E Bowen, Laura D Attardi
Aug 5, 2018·Nature Communications·Stephen M RawlinsonGregory W Moseley
Jan 5, 2020·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Takahiko YamadaSachiko Iseki
Jun 9, 2020·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Casey Griffin, Jean-Pierre Saint-Jeannet
Nov 21, 2019·International Journal of Environmental Research and Public Health·Junka Nakagawa KangKeiji Moriyama
Oct 6, 2020·Oxidative Medicine and Cellular Longevity·Kinga Toboła-WróbelEwa Florek
Apr 22, 2020·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Marie-Claude BeauchampLoydie Anne Jerome-Majewska
Sep 7, 2018·Experimental and Therapeutic Medicine·Zhiqiang YanDongyi Han
Oct 22, 2020·Cell Death and Differentiation·Xin NieYong Zhao
Feb 7, 2021·Developmental Biology·Debadrita BhattacharyaMarcos Simoes-Costa
Feb 26, 2021·Trends in Molecular Medicine·Nicolas Pilon
Apr 4, 2021·International Journal of Molecular Sciences·Małgorzata Grzanka, Agnieszka Piekiełko-Witkowska
Apr 16, 2021·Frontiers in Physiology·Hiroyuki YamaguchiYoshihiro Komatsu
Apr 27, 2021·The Proceedings of the Nutrition Society·Maret G Traber
Aug 17, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Meng LuBo Pan
Aug 29, 2021·Archives of Oral Biology·Mariana G Lecourtois-AmézquitaJuan Santiago-García

❮ Previous
Next ❯

Methods Mentioned

BETA
immunoprecipitation
X-ray
transfection
fluorescence-activated cell sorting
PCR
electrophoresis
flow cytometry

Software Mentioned

MudPIT
OpenComet
Zeiss LSM5
Treacle
ImageJ

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

Proceedings of the National Academy of Sciences of the United States of America
Jill DixonP A Trainor
Orthodontics & Craniofacial Research
Jill DixonM J Dixon
The International Journal of Biochemistry & Cell Biology
Daisuke Sakai, P A Trainor
Pediatrics International : Official Journal of the Japan Pediatric Society
Hirotaka FujiokaYukio Sakiyama
© 2022 Meta ULC. All rights reserved