Geneticists at the US National Institute of Environmental Sciences have discovered a gene that causes some people to be born without a nose. The results of the study were published in the journal Science Advances.
This condition is called aronia. This is a rare congenital anomaly in which the nostrils and the entrance to the nasal cavity are absent. This condition develops if a lumen in the olfactory placode is not formed during embryonic development. Previously, scientists did not know the genetic basis of this disease.
In the new work, the scientists used cells from people with aronia to analyze their genome. They also studied healthy embryonic cells in which the SMCHD1 gene, a mutation in which causes shoulder-blade-facial muscular dystrophy, has been disabled. Previously, scientists assumed that this gene is responsible for the absence of a nose.
As a result, it turned out that embryonic cells with a disabled gene lost the ability to group into clusters. In addition, the DUX4 gene was activated in them, due to which the process of transferring DNA to the form of RNA was disrupted. According to scientists, all this can lead to aronia. Their discovery will help develop new strategies for predicting this anomaly and preventing it in the future.