For the first time ever, scientists from the University of Rochester Medical Center have isolated stem cells capable of forming skulls and conducting craniofacial bone repair in mice, which brings us closer to being able to utilize stem cells for the reconstruction of face and head bones in humans. Wei Hsu, senior author of the study, claims that the main goal of current and future studies by the team is to find stem cell therapy techniques for the condition craniosynostosis, which is a skull deformity in infants that can lead to developmental delays and elevated brain pressure that can be life-threatening, as outlined in the university's press release.

Hsu and his team have been examining the function of the Axin2 gene for years, as well as a mutation that causes craniosynostosis in mice. Due to the unique pattern of expression of the Axin2 gene in the skull, the lab began to explore the activity of cells involved in Axin2 expression and their connection to bone repair, formation and regeneration.

In the current study, the team discovered that stem cells central to skull formation are located within Axin2 cell populations, which make up approximately 1 percent of them. Furthermore, the lab tests used to reveal skeletal stem cells may be able to help scientists examine the bone diseases that originate from stem cell abnormalities.

In addition to the discovery of stem cells central to skull formation, the team also revealed that these unique cells are specific to bones of the head and that the long bones in the legs and other parts of the body are governed by another distinct population of stem cells.

The findings were published in the Feb. 1 issue of Nature Communications.