Advances in Down Syndrome Research (Journal of Neural Transmission. Supplementa, 67)

"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. Front Matter....Pages I-X A new mouse model for Down syndrome....Pages 1-20 Predicting pathway perturbations in Down syndrome....Pages 21-37 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....Pages 39-49 Cell cycle and cell size regulation in Down Syndrome cells....Pages 51-58 Transcription factor REST dependent proteins are comparable between Down Syndrome and control brains: challenging a hypothesis....Pages 59-66 An altered antioxidant balance occurs in Down syndrome fetal organs: Implications for the “gene dosage effect” hypothesis....Pages 67-83 Overexpression of C1-tetrahydrofolate synthase in fetal Down Syndrome brain....Pages 85-93 Increased expression of human reduced folate carrier in fetal Down syndrome brain....Pages 95-103 Chromosome 21 KIR channels in brain development....Pages 105-115 Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down Syndrome brain....Pages 117-128 The MNB/DYRK1A protein kinase: Neurobiological functions and Down syndrome implications....Pages 129-137 The MNB/DYRK1A protein kinase: Genetic and biochemical properties....Pages 139-148 Cytoskeleton derangement in brain of patients with Down Syndrome, Alzheimer’s disease and Pick’s disease....Pages 149-158 The cerebral cortex in Fetal Down Syndrome....Pages 159-163 Polysomnography in transgenic hSOD1 mice as Down syndrome model....Pages 165-171 Spectrum of cognitive, behavioural and emotional problems in children and young adults with Down syndrome....Pages 173-191 Overexpression of transcription factor BACH1 in fetal Down Syndrome brain....Pages 193-205 Down syndrome and associated congenital malformations....Pages 207-214 RNA Microarray analysis of channels and transporters in normal and fetal Down Syndrome (trisomy 21) brain....Pages 215-224 Heart type fatty acid binding protein (H-FABP) is decreased in brains of patients with Down syndrome and Alzheimer’s disease....Pages 225-234 Stem cell marker expression in human trisomy 21 amniotic fluid cells and trophoblasts....Pages 235-242 Presents the research in several areas of Down Syndrome (DS). This book offers cell cycle and stem cell studies, in terms of biology, and explains the relevance of studies on a specific protein kinase, channels, transporters, superoxide dismutase, antioxidant system, chromosome assembly factor and other important biological structures. FISH analysis was used to determine the retention rate of Chr 21 in cells from brain, heart, liver, spleen, bone-marrow, and in cultured tail-fibroblasts of adult chimeric mice.