Abstract
Experimental work regarding corrective actions on chromosomes and genes, and control of gene products is yielding promising results. It opens the way to advances in dealing with the etiological aspects of Down syndrome and may lead to important changes in the life of individuals affected with this condition. A small number of molecules are being investigated in pharmacological research that may have positive effects on intellectual functioning. Studies of the pathological consequences of the amyloid cascade and the TAU pathology in the etiology of Alzheimer disease (AD), which is more frequent and occuring earlier in life in persons with Down syndrome (DS), are presented. The search for biological markers of AD and ways for constrasting its early manifestations are also discussed.
Highlights
The prevalence rate of intellectual disability in the general population is estimated to be between 1 and 3%
In spite of a large number of conceptual and methodological limitations of these studies, the preliminary character of most of the findings reported, and the biologcal gaps between animal and human cognition, it would seem that this trend of research holds a potential for improving the neurobiology and possibly behavioral aspects of people affected with Down syndrome (DS)
Amano et al [19] normalized the karyotypes in a culture of mouse embryonic stem cells engineered to become aneuploid or polyploid, using a biologic made of a mammalian-specific gene, ZSCAN4 containing 4 transcription factors regularly expressed in preimplantation embryos and occasionally in stem cells, which were encoded for delivery in a synthetic messenger RNA and Sendai virus vector
Summary
The prevalence rate of intellectual disability in the general population is estimated to be between 1 and 3%. A smaller region in Hsa, labelled DSCR (Down Syndrome Critical Region), involving bands 21q21.1 and 21q22.2, which includes about 50 protein-coding genes and a larger number of non-coding elements, may arguably harbor most of the critical determinants of the phenotype of the condition [5]. The main result is that there is one highly restricted region in DSCR, which they dubbed HR (highly restricted)-DSCR, of only 34 kilobases It is located in the distal part of the 21q22.13 sub-band. As to the identification of the genetic determinants located in HR-DSCR, the authors speculate that unknown microRNAs (miRNAs) in this region could be involved in DS pathology with the capability to regulate a large number of protein-coding genes. The HR-DSCR could carry longer-range interactions with other chromosomes
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