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Study finds cleft lip caused by genes and environment

Researchers have for the first time demonstrated the role of epigenetics in the occurrence of cleft lip or palate, showing that genetic and inflammatory environmental factors combine to cause the birth defect. (Image: PeopleImages.com - Yuri A/Shutterstock)
Dental Tribune International

Dental Tribune International

Tue. 6 June 2023


LONDON, UK: The craniofacial malformations cleft lip or palate affect one in 700 live births and can lead to severe dental problems. A study by researchers at University College London and the University of São Paulo in Brazil has revealed how a combination of genetic and environmental factors lead to the formation of the condition in a developing foetus. The researchers hope that the findings will lead to preventive strategies for the condition in antenatal care.

Dental Tribune International reported in 2019 that researchers in Germany and the US had identified a genetic mechanism that triggers the development of cleft lip or palate. Gene–environment interactions had been believed to contribute to the occurrence of the condition, and the latest research shows that it arises from a combination of mutations in the E-cadherin gene and environmental risk factors experienced during pregnancy.

Dr Roberto Mayor, senior author of the study and professor of developmental and cellular neurobiology at University College London, commented in a press release: “It has been known for some time 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 cleft lip. Here, for the first time we have shown how these two factors work together, and why both genetic and environmental risk factors are necessary for a child to be born with cleft lip.”

The researchers studied families with the genetic mutation and observed that not all of those who carried it develop cleft lip or palate. The researchers used the mutation to generate similar malformations in mice and frogs and noted that this only occurred in animals who were additionally exposed to inflammatory environmental factors. Similar effects were observed in human stem cells having both the mutation and inflammation, according to a University College London press release.

“Our study is the first to demonstrate in detail how genetic and environmental factors combine to cause a birth defect, while it is also a noteworthy example of epigenetics, as environmental factors influence the expression of a gene,” Dr Lucas Alvizi, first author of the study and a research fellow in the Department of Cell and Developmental Biology at University College London, commented in the press release.

Prof. Mayor pointed out that the findings could lead to preventive strategies for cleft lip or palate. “Testing for this mutation could be a straightforward part of antenatal care, so that if someone carries the mutation, they would be advised to take steps to reduce the risk of inflammation that could combine with the genetic factor to result in a cleft lip. In addition to targeting factors such as smoking, the prescription of anti-inflammatory drugs may also help for at-risk pregnant women,” he said.

The study, titled “Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene–environment interaction”, was published online on 24 May 2023 in Nature Communications, ahead of inclusion in an issue.

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