Researchers at the National Institute of Environmental Health Sciences in the United States have reported a discovery about a gene-related condition that can result in rare nasal anomalies. The findings appear in Science Advances and focus on how certain genetic factors influence the development of facial structures during early growth.
The condition discussed, referred to in the study as aronia, describes a rare congenital absence of the nostrils and nasal cavity entrance. The researchers explain that this outcome may occur when a crucial lining inside the developing nasal region fails to form properly during embryogenesis, interrupting normal nasal formation. Prior to this work, the genetic underpinnings of this anomaly were not well understood.
In the study, cells derived from individuals with aronia were examined alongside healthy embryonic cells in which a gene called SMCHD1 was experimentally disabled. This gene has been linked to other muscular and facial developmental traits in past research. The investigation tested whether alterations in SMCHD1 could influence nasal development, challenging earlier assumptions about its role in causing the absence of a nose.
Findings showed that embryonic cells with altered SMCHD1 experienced disrupted cellular organization, and the DUX4 gene became more active as the DNA-to-RNA transfer process was affected. Scientists conclude that these changes may contribute to the development of aronia. The work offers a path to better predict this anomaly and explore potential preventive strategies in the future, underscoring the importance of understanding how early gene regulation shapes facial structures.