Craniofacial malformations – cleft lip or cleft palate – affect one in 700 live births and can lead to serious dental problems. A study by scientists at University College London and the University of São Paulo in Brazil showed how a combination of genetic and environmental factors lead to the formation of this condition in a developing fetus. The researchers hope that the results will lead to the development of strategies to prevent this condition in prenatal care. -guba-vyzvana-genami-i-okruzhajushhej-sredoj-ee95fe8.jpg” alt=”Research shows that cleft lip is caused by genes and environment” />
In 2019, researchers from Germany and the US identified the genetic mechanism that triggers the development of cleft lip, or cleft palate. Gene-environment interactions have been thought to contribute to the condition, and recent research suggests that it results from a combination of mutations in the E-cadherin gene and environmental risk factors that occur during pregnancy.
Dr Roberto Mayor, senior author of the study and professor of evolutionary and cellular neuroscience at University College London, commented in a press release: “It is already known that there is a genetic component to cleft lip and that some environmental factors such as smoking, stress, infections and malnutrition during pregnancy can also increase the risk of developing this pathology.We recently showed for the first time how these two factors work together and why the birth of a child with a cleft lip is influenced not only by genetic, but also by environmental risk factors.”
Researchers studied families with the genetic mutation and noticed that not all carriers develop cleft lip or palate. The researchers used the mutation to create similar malformations in mice and frogs and noted that this only occurred in animals that were exposed to additional environmental inflammatory factors. According to a press release from University College London, similar effects have been observed in human stem cells that have both mutation and inflammation.
“Our study is the first to demonstrate in detail how genetic and environmental factors combine to cause a birth defect. This is a remarkable example of epigenetics, as environmental factors affect gene expression,” commented Dr. Lucas Alvisi, first author of the study and research fellow in the Department of Cell and Developmental Biology at University College London, in a press release.
Professor Major noted that the findings could lead to the development of strategies for the prevention of cleft lip or palate. “Testing for this mutation could be a simple part of prenatal care and, if someone is a carrier of the mutation, advise her to take steps to reduce the risk of inflammation, which, combined with a genetic factor, can lead to cleft lip. In addition to combating such factors like smoking, prescribing anti-inflammatory drugs can also help pregnant women at risk,” he said.