Advances in Down Syndrome Research

"Advances in Down Syndrome Research” represents updated research in several areas of Down Syndrome (DS). A new promising animal model of DS is reported and this opens new opportunities to study pathomechanisms and pharmacological approaches as it is more than difficult to carry out studies in humans and the clinical features are highly variable. In terms of biology, cell cycle and stem cell studies and in terms of biochemistry, relevance of studies on a specific protein kinase, channels, transporters, superoxide dismutase, antioxidant system, chromosome assembly factor and other important biological structures are provided. And again, the gene dosage hypothesis is addressed and although the vast majority of chromosome 21 gene products is unchanged in fetal DS brain, a few specific chromosome 21 encoded structures including transcription factors are indeed overexpressed although findings in fetal DS are different from those in adult DS brain when Alzheimer-like neuropathology supervenes.

A new mouse model for Down syndrome.- Predicting pathway perturbations in Down syndrome.- Aberrant protein expression of transcription factors BACH1 and ERG, both encoded on chromosome 21, in brains of patients with Down syndrome and Alzheimer’s disease.- Cell cycle and cell size regulation in Down Syndrome cells.- Transcription factor REST dependent proteins are comparable between Down Syndrome and control brains: challenging a hypothesis.- An altered antioxidant balance occurs in Down syndrome fetal organs: Implications for the “gene dosage effect” hypothesis.- Overexpression of Cl-tetrahydrofolate synthase in fetal Down Syndrome brain.- Increased expression of human reduced folate carrier in fetal Down syndrome brain.- Chromosome 21 KIR channels in brain development.- Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down Syndrome brain.- The MNB/DYRK1A protein kinase: Neurobiological functions and Down syndrome implications.- The MNB/DYRK1A protein kinase: Genetic and biochemical properties.- Cytoskeleton derangement in brain of patients with Down Syndrome, Alzheimer’s disease and Pick’s disease.- The cerebral cortex in Fetal Down Syndrome.- Polysomnography in transgenic hSOD1 mice as Down syndrome model.- Spectrum of cognitive, behavioural and emotional problems in children and young adults with Down syndrome.- Overexpression of transcription factor BACH1 in fetal Down Syndrome brain.- Down syndrome and associated congenital malformations.- RNA Microarray analysis of channels and transporters in normal and fetal Down Syndrome (trisomy 21) brain.- Heart type fatty acid binding protein (H-FABP) is decreased in brains of patients with Down syndrome and Alzheimer’s disease.- Stem cell marker expression in humantrisomy 21 amniotic fluid cells and trophoblasts.