The Molecular Biology Of Down Syndrome (journal Of Neural Transmission. Supplementa)

This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology. Front Matter....Pages I-X Molecular abnormalities of the brain in Down Syndrome: relevance to Alzheimer’s neurodegeneration....Pages 1-19 Reduced aldehyde dehydrogenase levels in the brain of patients with Down Syndrome....Pages 21-40 The Down Syndrome critical region....Pages 41-60 Neuropathology....Pages 61-74 c-fos expression in brains of patients with Down Syndrome....Pages 75-85 Neuronal cell death in Down’s syndrome....Pages 87-97 Altered gene expression in fetal Down Syndrome brain as revealed by the gene hunting technique of subtractive hybridization....Pages 99-124 Gene expression in fetal Down Syndrome brain as revealed by subtractive hybridization....Pages 125-136 Molecular misreading of genes in Down syndrome as a model for the Alzheimer type of neurodegeneration....Pages 137-159 Expression of the dihydropyrimidinase related protein 2 (DRP-2) in Down Syndrome and Alzheimer’s disease brain is downregulated at the mRNA and dysregulated at the protein level....Pages 161-177 Gene expression relevant to Down Syndrome: problems and approaches....Pages 179-195 Isolation and analysis of chromosome 21 genes potentially involved in Down Syndrome....Pages 197-209 Differential display reveals deteriorated mRNA levels of NADH3 (complex I) in cerebellum of patients with Down Syndrome....Pages 211-220 Serotonin (5-HT) in brains of adult patients with Down Syndrome....Pages 221-232 Mechanisms of neuronal death in Down’s syndrome....Pages 233-245 Impaired brain glucose metabolism in patients with Down Syndrome....Pages 247-256 Oxidative stress and neural dysfunction in Down Syndrome....Pages 257-267 Expression of the transcription factor ETS2 in brain of patients with Down Syndrome—evidence against the overexpression-gene dosage hypothesis....Pages 269-281 Neuronal apoptosis inhibitory protein (NAIP)-like immunoreactivity in brains of adult patients with Down syndrome....Pages 283-291 The “gene dosage effect” hypothesis versus the “amplified developmental instability” hypothesis in Down syndrome....Pages 293-303 Downregulation of the transcription factor scleraxis in brain of patients with Down Syndrome....Pages 305-314 Heat-shock protein 70 levels in brain of patients with Down Syndrome and Alzheimer’s disease....Pages 315-322 Increased levels of 14-3-3 gamma and epsilon proteins in brain of patients with Alzheimer’s disease and Down Syndrome....Pages 323-335 Application of Alu -splice PCR on chromosome 21: DSCR1 and Intersectin ....Pages 337-352 Overexpression of DNAse I in brain of patients with Down Syndrome....Pages 353-362 Back Matter....Pages 363-366