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- Hereditary experiment: atlas of facial genes will help in the treatment of cleft lip
Hereditary experiment: atlas of facial genes will help in the treatment of cleft lip
For the first time, scientists have described the genetic mechanism that forms the individual facial features of an embryo at 6-11 weeks of development. Not only genes are responsible for the unique features of appearance, which are practically not repeated in different people, but also the "switches" that control their activity. The revealed patterns will help specialists to understand the causes of many congenital craniofacial pathologies and develop methods of their treatment. However, according to experts, the results have yet to be confirmed experimentally for practical application.
Atlas of facial genes
For the first time, an international group of scientists, which included Russian researchers, has created a kind of atlas — a map of various types of cells and regulatory elements involved in the formation of individual human traits. In addition to the fundamental importance, the results of the work will help in the treatment of congenital craniofacial malformations, and may also become the basis for tissue cultivation in the interests of regenerative medicine.
"Human genetic diversity generates an amazing variety of facial shapes, and craniofacial abnormalities are among the most common birth defects. Identifying the cellular mechanisms by which the genome influences the variability of facial features remains a challenging task. In this study, we have created a multimodal atlas of face formation at 6-11 weeks of embryonic development," the scientists wrote in an article for the journal Nature Genetics.
The study showed that the "foundation" of the face is laid at the earliest stages of embryo development. An important role in this is played by the so—called spatial genes, which seem to mark the face into separate zones - the nose, eye sockets, dental area and lower jaw. At the same time, individual traits are largely formed due to special "switches" that activate genes at the right time and in certain cells.
The created atlas will help doctors interpret the role of DNA variants, whose function is still unknown to scientists and which are found in patients with facial malformations. With its help, experts will be able to find out in which types of cells and at what stage of development these genetic mechanisms are activated.
This work significantly deepens the understanding of the role of genes and their regulatory regions in face formation, explained Oleg Gusev, a participant in the study and head of the Extreme Biology Laboratory at KFU.
— A huge number of diseases are associated with changes in the morphology of the face. Not only mutations in the genes themselves are important, but also changes in the regulatory elements of the genome (they control gene expression). Using this data, you can get new tools. Genomic analysis is becoming increasingly available. If a mutation is found in a child that the parents do not have, and it is outside the gene, we can say with a high degree of probability that it is related to the disease that affected the face. That's the practical point of the job," he said.
Treatment of congenital pathologies
With cleft lip, pathology can develop not only due to abnormalities in the gene itself, but also due to changes in the regulatory element of the genome. Understanding the cause allows us to influence the mechanism of development of the disease, Oleg Gusev explained.
— In this work, the biochemical processes associated with genes, cells and tissues of the face have been reconstructed. This allows us to understand which drugs can help guide facial development along the right path and how to compensate for genetic disorders. The first step to creating new gene therapy drugs is understanding exactly what is working wrong," the specialist said.
The presented study is only the initial stage towards understanding the genetic causes of the development of facial pathologies. It required expensive genome sequencing, conducted on a limited sample, said immunologist Mikhail Bolkov in an interview with Izvestia. According to him, the human face is one of the important evolutionary criteria on the basis of which natural selection operates. In animals, this factor plays a less significant role.
— Humans have an extremely complex structure of the facial skeleton, the formation of which begins before the 11th week of fetal development. The data obtained on the causes of pathologies are important, but require further verification and confirmation. Nevertheless, scientists are moving in the right direction," he noted.
According to geneticist Evgeny Lilin, the study opens up prospects for influencing the regions of the genome associated with the formation of individual facial features. However, before applying the results obtained in practice, scientists need to check how external factors influence this process.
So far, there are only experimental methods of influencing the described genetic mechanisms and they cannot be used for medical purposes. In addition, modern gene modification technologies are not considered safe, said Maria Vedunova, Director of the Institute of Biology and Biomedicine at UNN State University.
— There are no genes solely responsible for the formation of the face. Exposure to them can affect other processes in the body. Isolated facial anomalies significantly complicate a person's life and affect their socialization. However, such violations are rare and are diagnosed too late, when it is no longer possible to correct them," she noted.
So far, it is possible to work ahead of schedule only in a small number of cases when the disease is of a family nature.
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