Epigenetic Correction and Early Brain Pharmacotherapy in Down Syndrome
DOI:
https://doi.org/10.12970/2310-8231.2024.12.01Keywords:
Down syndrome, trisomy 21, Hsa21, DYRK1A, epigenetics, epigallocatechin-3-gallate, chromosome silencing, XIST RNA (ribonucleic acid), neurogenesis, neuronal connectivityAbstract
Down syndrome (DS) is the most frequent autosomal aneuploidy. It refers to a genetic condition due to the triplication of human chromosome 21 (Hsa21). Disruption of the phenotype is thought to be the result of gene-dosage imbalance. This phenotype is always characterized by neurodevelopmental anomalies. Additionally, persons with DS have higher risks of several medical challenges. These include congenital heart disease, susceptibility to viruses and immune defects, metabolic changes, and hematopoietic abnormalities. In recent years, experimental work has been conducted with the aim of correcting overexpressed genes on chromosome 21 or silencing the extra chromosome 21 to normalize genetic expression. The paper examines the clinical feasibility of these attempts and identifies several caveats. Improving neurogenesis, dendritic density and synaptic connectivity with pharmacological substances is more at hand with the current technical knowledge and legal provisos.
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