It is not clear why any particular child is born with a cleft lip and palate or not. Researchers have identified various factors that increase the probability and interact with each other. This is called multifactorial development.
One of these factors is genes. Again, the situation is not clear – there is no such thing as “the cleft gene”. It is likely that a combination of genes can play a role – more than 45 genetic segments are known in which “risk variants” can occur. Research on this topic is ongoing and making steady progress.
Researchers at the University of Bonn have now made another step forward. The research group of Dr. Kerstin U. Ludwig (pictured left, photo: Felix Heyder/Andreas Stein/UKB) from the University of Bonn submitted an article for publication (first author: PhD student Hanna Zieger, pictured right), which examines the 98% of genes in 200 cleavage patients that do not themselves directly contain blueprints for proteins.
Proteins are important components of the body whose plans are recorded in the so-called genome, the totality of a person’s genes. However, as mentioned, these plans make up only 2% of the genome. The remaining 98% partially regulate the function of other genes, for other parts of the genome it is not yet known what their function is.
The study found that in cleft patients, rare new mutations are found in certain sections of the genome that did not exist in the parents of the patients who do not have clefts themselves. For example, docking sites for a protein called musculin, which affects the reading of genes near the docking site, are affected.
The study described is still basic research. The road to a concrete therapy is still long. But the researchers have added new knowledge about the biological mechanisms that contribute to cleft lip and palate.
Perhaps one day, when these mechanisms are fully understood, doctors will be able to find methods to detect the onset of a forming cleft during pregnancy and halt the process so that the child is born without a cleft and does not need surgery at all. But there is still a very long way to go until then. And until then, we will be there for these children.
