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

Daisuke Sakai, Jill Dixon, Annita Achilleos, Michael Dixon, Paul A Trainor

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)10328
JournalNature Communications
Publication statusPublished - 21 Jan 2016


  • Animals
  • Antioxidants
  • Dietary Supplements
  • Disease Models, Animal
  • Female
  • Humans
  • Male
  • Mandibulofacial Dysostosis
  • Maternal Nutritional Physiological Phenomena
  • Mice
  • Mice, Inbred C57BL
  • Nuclear Proteins
  • Phosphoproteins
  • Pregnancy
  • Journal Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't


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