The Role of the RAD21 Gene in Enhancing Development in Children with Down Syndrome Research Paper

Introduction

The hypothesis is that some children with Down Syndrome develop better than others, and this is due to the presence of the RAD21 gene in them. This gene activates essential cellular functions of the protein encoded by this gene, contributing to partially activating neural activity. The rationale behind this statement is that the RAD21 gene carries information through processes that ensure the functioning of various cells (Li & Kalev-Zylinska, 2022). Changes occurring in this zone entail a change in the course of Down syndrome.

The Role of the RAD21 Gene in the Syndrome Development

It has been experimentally established that the RAD21 gene regulates gene expression and protein synthesis and can act as an enhancer and a silencer for various genes (Li & Kalev-Zylinska, 2022). Transcription factors – specific proteins that control the process of RNA synthesis, that is, transcription, strengthening or weakening it – can bind to the RAD21 gene as a regulatory site. Therefore, because this site is regulatory and due to its unique structure, it contributes to better development, including the mental, of a child with Down syndrome.

The project to study the RAD21 gene in children with Down syndrome is innovative because it can provide a basis for earlier detection of the disease and its course control. The research of this gene belongs to modern biotechnology, combining information and tools from a wide array of interrelated sciences. It uses innovative cross-foundation of genetics, biology, chemistry, and virology in order to obtain new hereditary properties of the human organism. These studies can help patients with Down syndrome by further creating an innovative drug that helps improve cognitive processes also for those children who lack the RAD21 gene.

Currently, the question of a complete cure for Down syndrome is being raised. The very formulation of this question became possible due to the receipt of an innovative experimental model of the disease and the use of specific RAD21 genes. When the link between human chromosome 21 and mouse chromosome 16 was established, mice carrying an additional copy of mouse chromosome 16 were recognized as a potentially suitable model for studying Down syndrome (Liu et al., 2021).

The Innovation in the Syndrome Cure

Currently, an innovative mouse model, Ts65Dn, with an additional copy of a part of mouse chromosome 16 that corresponds to a part of the human RAD21 gene, is being studied intensively (Liu et al., 2021). The Ts65Dn model has many features that are comparable to the phenotypic manifestations of Down syndrome in humans, including learning and memory problems, neuroanatomic, and other characteristics. An even more precise model of Down syndrome is RAD21 mice, which often have heart defects comparable to those of human Down syndrome, learning and memory problems.

In Down syndrome, even at the stage of fusion of germ cells, a fetal egg is formed with an extra chromosome, an additional copy of chromosome 21, or this extra copy is formed in the first hours after fusion during cell division. The cause may be a genetic accident when paired chromosomes have not diverged in an egg or sperm, a violation of cell division, or an inheritance of a mutation from a parent (Bache et al., 2020). An extra copy’s mechanism of occurrence affects the karyotype anomaly’s variant: simple trisomy, mosaic, and unbalanced.

The Importance of the Study

It is essential to study the RAD21 gene since the type of abnormalities largely determines how much Down syndrome affects a person’s mental abilities and physical condition. There may be significant variations in congenital malformations, mental retardation, and health disorders up to secondary immunodeficiency (Latorre-Pellice et al., 2020). Therefore, working with this gene can create an innovative picture of a child’s most likely future health problems.

Genetic abnormalities are difficult to treat. At the moment, removing an extra chromosome in a living organism is impossible. However, such an innovative action is already possible in cell culture: scientists could remove an unnecessary copy from cells grown based on human stem cells with trisomy (Latorre-Pellice et al., 2020). They used an adeno-associated virus to deliver the transgenic to the right place and forced the extra RAD21 chromosome to self-destruct. Therefore, prospects in this direction, in theory, can help cure a child with Down syndrome at the stage of intrauterine development. However, other opportunities to improve patients’ lives seem much more accurate, thanks to an innovative new study of the RAD21 gene.

Conclusion

An international team of doctors from several European countries has developed an innovative guide for monitoring people with Down syndrome with the RAD21 gene. It defines the timing of certain medical studies in patients of different ages to prevent complications that worsen the condition of patients. However, work on this program, designed to become an essential document for developing appropriate standards in each specific country, continues. Currently, this is being done, among other things, by the International Association of Physicians Working in the field of Down syndrome research (Liu et al., 2021). At the same time, they rely on the recently obtained new information from the RAD21 gene, which has become one of the engines of the development of an offshoot of medicine studying Down syndrome.

References

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Li, J., & Kalev-Zylinska, M. L. (2022). Advances in molecular characterization of myeloid proliferations associated with Down syndrome. Frontiers in Genetics, 13(2), 35-46. Web.

Liu, N. Q., Maresca, M., Brand, T., Braccioli, L., Schijns, M., Teunissen, H., Bruneau, B. G., Nora, E. P., & Wit, E. (2021). WAPL maintains a cohesin loading cycle to preserve cell-type specific distal gene regulation. Nature Genetics, 53(1), 100-109. Web.