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

Author

Listed:
  • Daisuke Sakai

    (Organization for Research Initiatives and Development, Doshisha University, Karasuma Higashi-iru, Imadegawa-dori)

  • Jill Dixon

    (Dental School, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester)

  • Annita Achilleos

    (Stowers Institute for Medical Research)

  • Michael Dixon

    (Dental School, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester
    Faculty of Life Sciences, Michael Smith Building, University of Manchester)

  • Paul A. Trainor

    (Stowers Institute for Medical Research
    University of Kansas Medical Center)

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.

Suggested Citation

  • Daisuke Sakai & Jill Dixon & Annita Achilleos & Michael Dixon & Paul A. Trainor, 2016. "Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation," Nature Communications, Nature, vol. 7(1), pages 1-13, April.
  • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms10328
    DOI: 10.1038/ncomms10328
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    Cited by:

    1. Junka Nakagawa Kang & Yuko Unnai Yasuda & Takuya Ogawa & Miri Sato & Zentaro Yamagata & Takeo Fujiwara & Keiji Moriyama, 2019. "Association between Maternal Smoking during Pregnancy and Missing Teeth in Adolescents," IJERPH, MDPI, vol. 16(22), pages 1-12, November.

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