The Molecular Biology of Down Syndrome

ISBN-13: 9783211833780 / Angielski / Twarda / 1999 / 366 str.

G. Lubec; G. Lubec; Gert Lubec

Opis

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.

Spis treści

Molecular abnormalities of the brain in Down Syndrome: relevance to Alzheimer’s neurodegeneration.- Reduced aldehyde dehydrogenase levels in the brain of patients with Down Syndrome.- The Down Syndrome critical region.- Neuropathology.- c-fos expression in brains of patients with Down Syndrome.- Neuronal cell death in Down’s syndrome.- Altered Gene expression in fetal Down Syndrome brain as revealed by the Gene huntinG technique of subtractive hybridization.- Gene expression in fetal Down Syndrome brain as revealed by subtractive hybridization.- Molecular misreadinG of Genes in Down syndrome as a model for the Alzheimer type of neurodegeneration.- 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.- Gene expression relevant to Down Syndrome: problems and approaches.- Isolation and analysis of chromosome 21 Genes potentially involved in Down Syndrome.- Differential display reveals deteriorated mRNA levels of NADH3 (complex I) in cerebellum of patients with Down Syndrome.- Serotonin (5-HT) in brains of adult patients with Down Syndrome.- Mechanisms of neuronal death in Down’s syndrome.- Impaired brain Glucose metabolism in patients with Down Syndrome.- Oxidative stress and neural dysfunction in Down Syndrome.- Expression of the transcription factor ETS2 in brain of patients with Down Syndrome — evidence against the overexpression-Gene dosage hypothesis.- Neuronal apoptosis inhibitory protein (NAIP)-like immunoreactivity in brains of adult patients with Down Syndrome.- The “Gene dosage effect” hypothesis versus the “amplified developmental instability” hypothesis in Down Syndrome.- Downregulation of the transcription factor scleraxis in brain of patients with Down Syndrome.- Heat-shock protein 70 levels in brain of patients with Down Syndrome and Alzheimer’s disease.- Increased levels of 14-3-3 Gamma and epsilon proteins in brain of patients with Alzheimer’s disease and Down Syndrome.- Application of Alu-splice PCR on chromosome 21: DSCR1 and Intersectin.- Overexpression of DNAse I in brain of patients with Down Syndrome.