Biology - Skull and spinal defects

Researchers at the Russell Lab, the Mammalian Genetics Research Facility at DOE's Oak Ridge National Laboratory, have generated a mutant mouse with spinal curvature and defects in the skull. The mutated gene, Nell1, which the researchers identified, affects numerous genes that control bone and cartilage formation during early development. The research, recently published in the journal Human Molecular Genetics, could help scientists better understand human skull and spinal malformations. Spinal curvature problems in humans can occur due to congenital disorders, as with scoliosis, and as a natural consequence of aging. ORNL is also collaborating with the University of California, Los Angeles, to further characterize the skull defects. Some children with prematurely fused skulls express too much of the Nell1 gene. Further study into the pathways leading to spinal curvature problems are being pursued at ORNL. The work is funded by the DOE's Office of Biological and Environmental Research.