Researchers from the Francis Crick Institute, King’s College London, and University College London have identified genetic factors influencing facial and skull structure in a mouse model of Down Syndrome, as reported in the journal Development. The study reveals that an additional copy of the gene Dyrk1a, along with at least three other genes, contributes to craniofacial dysmorphology—changes in the structure and shape of the face and skull. Utilizing genetic engineering, the researchers developed mouse strains simulating Down Syndrome traits, showing altered skull characteristics and reduced bone cell numbers in certain skull regions.
An extra copy of Dyrk1a was found to hinder the growth of neural crest cells, essential for forming facial bones, and the abnormal fusion of cartilaginous skull joints. Moreover, advanced shape-mapping techniques were applied to highlight these changes, closely resembling those seen in individuals with Down Syndrome. The findings aim to enhance understanding of Down Syndrome’s complex genetics, potentially guiding targeted treatments for related health issues such as congenital heart conditions and cognitive impairment. Future research will focus on identifying genes linked to these additional health impacts, aligning with the goal of developing effective treatments for the disorder.
