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Down syndrome (DS) is the most common hereditary disorder, resulting from trisomy of the human chromosome 21 (HSA21). The average incidence rate is about one per 700 births, with advanced maternal age being a risk factor. It is estimated that there are over 5,000,000 affected individuals worldwide. The ...

Down syndrome (DS) is the most common hereditary disorder, resulting from trisomy of the human chromosome 21 (HSA21). The average incidence rate is about one per 700 births, with advanced maternal age being a risk factor. It is estimated that there are over 5,000,000 affected individuals worldwide. The presence of an extra chromosome implicates that there are three copies of more than 200 genes associated with it, which could affect the expression and functionality of other genes as well. It is becoming increasingly clear that these irregularities are related to neurogenesis and brain formation, as well as age-associated neuropsychiatric disorders.

Research on DS mostly focuses on the function of individual HSA21 genes and investigating their roles on specific changes at the cellular and tissue levels in DS. Progress is made in the analyses of genes encoded in the DS critical region (DSCR), such as down syndrome cell adhesion molecule (DSCAM) and dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A). These studies suggest that dysfunction in these genes is associated with neurogenesis and stratification during prenatal life and are thereby related to the intellectual disability in DS. The next important step is to gain a comprehensive understanding of the overall effects of these genes on such processes, rather than simply evaluating the individual roles of each gene. Recently, there have been a lot of advances in the analyses of trisomy in experimental animals, and transcriptome research. The neuropathology of and potential treatments for dementia and early-onset Alzheimer's disease in DS patients are still pressing issues that need to be addressed.

The purpose of this research topic is to provide a comprehensive understanding of the wide range of research concerning the nervous system in DS. We welcome review articles highlighting on depth the scientific inquiry against DS, converging the entire spectrum of complementary knowledge of genes in DSCR, as well as neuropathology and treatment approaches for intellectual disability, loss of cognitive function, and early-onset Alzheimer's disease in individuals with DS. We especially welcome submissions that address various issues on this topic, including (but not limited to) the following:

• Examination of the association of specific genes-related brain development and mental retardation with DS
• Disease mechanisms of DS related diseases including but not limited to juvenile onset Alzheimer’s disease
• cell-type specific transcriptomics and proteomics in DS in aging brain
• Neurophysiological and neuroimaging studies of DS brain.
• Treatment studies, including adaptations of existing methods or the development of novel approaches.
• Genetic and biological analysis of animal models developed to approximate human cases.

We also welcome state-of-the-art original research articles, brain genetical, biochemical, histopathological, and behavioral changes correlated with DS patients. Suggested experimental models include cultured cells, animals, and human cells.

Keywords: Down Syndrome, Trisomy, Neurogenesis, Dementia, Alzheimer's Disease


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