Abstract
SHS investigation development is considered from the geographical and historical viewpoint. 3 stages are described. Within Stage 1 the work was carried out in the Department of the Institute of Chemical Physics in Chernogolovka where the scientific discovery had been made. At Stage 2 the interest to SHS arose in different cities and towns of the former USSR. Within Stage 3 SHS entered the international scene. Now SHS processes and products are being studied in more than 50 countries.
Abstract
Trisomy of chromosome 21 (Ts21), with duplication of one copy of all its genes to increase its copy number by 0.5-fold, is well tolerated, allowing the birth of live children. However, subjects with Ts21 suffer a spectrum of problems, including intellectual disability, skeletal deformity, and a number of secondary conditions such as defects in the visual system, hearing loss, cardiovascular disease, and a progressive dementia similar to Alzheimer’s disease (AD). In this chapter, we discuss the genotypephenotype relationships and identify the role played by individual genes. We also detail the role of the amyloid β (A4) precursor protein causing AD in Ts21 individuals.
Keywords:
Alzheimer’s disease, Amyloid, degradation, Down syndrome, gene duplication, lysosome, protein processing.
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Authors:Bentham Science Books