Scientists have found a novel mechanism that explains why a certain gene mutation results in craniofrontonasal syndrome (CFNS), which causes cleft palate and other malformations on the face.
Previous studies have revealed that a mutation in a gene called ephrin-B1 caused abnormalities in facial development, but researchers were uncertain of how.
Philipe M. Soriano, Professor, Developmental and Regenerative Biology, and Jeffrey O. Bush, PhD, Postdoctoral Fellow, Developmental and Regenerative Biology, both at Mount Sinai School of Medicine, studied mice embryos that were genetically engineered to have a mutation in the ephrin-B1 gene.
They determined that ephrin-B1 controls craniofacial development by signaling cells to multiply and when there is a mutation in this gene, it causes anomalies in the cell proliferation process
"Common thinking has been that ephrin-B1 only guided cells in craniofacial development. We were surprised to learn that, instead, this gene signals for cells to multiply, providing us with a clear understanding of why craniofacial development is abnormal when a mutation is present," said Soriano.
"Craniofacial anomalies are among the most common human birth defect. Our findings represent a critical step forward in understanding how cleft palate and other malformations develop, and will hopefully bring us closer to finding ways to prevent or treat these abnormalities," Bush added.
The research is published in the September issue of Genes and Development.