Researchers at Stowers used mice models to study craniofacial anomalies

Researchers at the Stowers Institute of Medical Research have come up with an efficient and trustworthy technique for studying high-arched palate. They used mouse models for the study which could expand research into the genetic aspects of this craniofacial abnormality. The research appeared in the journal Developmental Biology.

High-arched and cleft palate are craniofacial anomalies, accounting for one-third of all human congenital birth disorders. The high-arched palate is also known as “pseudo-cleft” or “vaulted palate.” It refers to an evident curvature of the roof of the mouth, leading many dental problems like enlarged gums and crowded molars. Moreover, it might trigger impaired speech and negatively affect a person’s quality of life.

Researchers comment that the genetic roots of the condition remain unclear. It is under-researched at the basic science level. Scientists are putting efforts for greater understanding of high-arched palate. This is because it can lead to insights into palatogenesis, or the generation of the palate, as a complex developmental process.

The research team used mice models for experimentation because they have long been used in genetic disorder research to mimic human diseases.

What did the research team do?

For this study, scientists used a mouse model of Treacher Collins syndrome (TCS). It is a human congenital condition that affects about 1 in 50,000 live births. It is characterized by impaired development of the bone and tissues of the head and face, including the palate.

The researchers used nuclear fluorescence imaging to generate 3-D images of the palates of the mice at several stages of development. The respective technique uses luminous dyes to observe objects that light-based microscopy cannot. The key characteristics, under analysis, included,

  • Palate shelf length
  • Shelf width
  • Arch height
  • Arch angle

The TCS mice showed signs of palate formation problems during development. Around 46 percent exhibited a soft or fully cleft palate. The study was enabled by a 10-year research effort to understand the causes and effects of TCS. One potent finding of the study shows that TCS mice born to mothers with reduced p53 gene function showed no signs of cleft palate.

Previous studies linked the p53 gene to an uptick in neuroepithelial cell death, resulting in the decline of migrating neural crest cells. Note these cells produce most of the cartilage, bone and connective tissue in an embryo’s face and head. An insufficient supply of these cells hampers the full development of the mouth and nasal cavity.


The current study reports an improvement and rescuing of high-arched palate phenotype by generating TCS mice with impaired p53 gene function. Thus, it suggests a link between tissue formed by cranial neural crest cells and the underdevelopment of the palatal shelf in the pathogenesis of high-arched palate.

The neuroepithelial cells, giving rise to neural crest cells, show marked sensitivity to oxidative stress. Furthermore, maternal antioxidant supplementation can lessen or prevent craniofacial abnormalities in the TCS mouse model. In other words, maternal antioxidant supplementation suppresses oxidative stress-induced p53-dependent neuroepithelial cell death. Probably, it may be a possible avenue for clinical prevention of TCS.

The findings of the study provide new insights into potential therapeutic avenues for prevention of Treacher Collins syndrome. Moreover, they highlight the primary significance of basic biology in understanding clinical problems.

Areeba Hussain

Areeba is an independent medical and healthcare writer. For the last three years, she is writing for Tophealthjournal. Her prime areas of interest are diseases, medicine, treatments, and alternative therapies. Twitter @Areeba94789300

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