This book presents latest original research work and current opinions on Down syndrome, focussing on the molecular biology of the Down syndrome brain at the protein level, rather than at nucleic acid level, as it is the proteins that do the work, and there is a long and unpredictable way from RNA to protein. The studies used fetal brains with Down syndrome in which no neurodegeneration was found and characterized proteins by two-dimensional gel electrophoresis and mass spectrometry. The book provides new aspects, such as that neuronal density and neurotransmission is unchanged in early life but synaptosomal structures and dendritic spines are already seriously affected at the early second trimester. The presentation of a series of tentative mechanisms for the development of the Down syndrome neurophenotype provides models for present and future thinking on the neurobiology of the Down syndrome brain.
Edited by:
G. Lubec
Imprint: Springer Verlag GmbH
Country of Publication: Austria
Edition: 2001 ed.
Volume: SUPP 61
Dimensions:
Height: 279mm,
Width: 210mm,
Spine: 22mm
Weight: 1.320kg
ISBN: 9783211837320
ISBN 10: 3211837329
Pages: 374
Publication Date: 15 October 2001
Audience:
Professional and scholarly
,
Professional and scholarly
,
Professional & Vocational
,
Undergraduate
,
A / AS level
Format: Hardback
Publisher's Status: Active
Decreased alpha-endosulfine, an endogenous regulator of ATP-sensitive potassium channels, in brains from adult Down syndrome patients.- Developmental instability of the cerebellum and its relevance to Down syndrome.- Expression of the multidrug resistance P glycoprotein (Pgp) and multidrug resistance associated protein (MRP1) in Down syndrome brains.- Deterioration of the transcriptional, splicing and elongation machinery in brain of fetal Down Syndrome.- Fetal life in Down Syndrome starts with normal neuronal density but impaired dendritic spines and synaptosomal structure.- Antioxidant proteins in fetal brain: superoxide dismutase-1 (SOD-1) protein is not overexpressed in fetal Down syndrome.- Glial-neurotrophic mechanisms in Down syndrome.- Aberrant expression of dihy-dropyrimidinase related proteins-2, -3 and -4 in fetal Down Syndrome brain.- Decreased protein levels of complex I 30-kDa subunit in fetal Down Syndrome brains.- Selective upregulation of the ubiquitin-proteasome proteolytic pathway proteins, proteasome zeta chain and isopeptidase T in fetal Down syndrome.- Functional genomics of Down Syndrome: a multidisciplinary approach.- Unaltered expression of Fas (CD95/APO-1), Caspase-3, Bcl-2 and Annexins in brain of fetal Down syndrome: evidence against increased apoptosis.- Alteration of caspases and other apoptosis regulatory proteins in Down syndrome.- Expression of apoptosis related proteins: RAIDD, ZIP kinase, Bim/BOD, p21, Bax, Bcl-2 and NF-kB in brains of patients with Down syndrome.- Increased brain protein levels of carbonyl reductase and alcohol dehydrogenase in Down Syndrome and Alzheimer’s disease.- Carbohydrate handling enzymes in fetal Down Syndrome brain.- Changes in nicotinic acetylcholine receptor subunits expression in brain of patients withDown syndrome and Alzheimer’s disease.- Protein levels of human peroxiredoxin subtypes in brains of patients with Alzheimer’s disease and Down Syndrome.- Effects of a single transdermal nicotine dose on cognitive performance in adults with Down syndrome.- The brain in Down syndrome.- Decreased levels of ARPP-19 and PKA in brains of Down syndrome and Alzheimer’s disease.- Increased protein levels of heterogeneous nuclear ribonucleoprotein A2/B1 in fetal Down syndrome brains.- Decreased protein levels of stathmin in adult brains with Down syndrome and Alzheimer’s disease.- Molecular neuropathology of transgenic mouse models of Down syndrome.- Down syndrome patients start early prenatal life with normal cholinergic, monoaminergic and serotoninergic innervation.- Expression profiles of proteins in fetal brain with Down syndrome.- Expression patterns of chaperone proteins in cerebral cortex of the fetus with Down Syndrome: dysregulation of T-complex protein 1.- ß-Amyliod precursor protein, ETS-2 and collagen alpha 1 (VI) chain precursor, encoded on chromosome 21, are not overexpressed in fetal Down syndrome: further evidence against gene dosage effect.- Reduction of nucleoside diphosphate kinase B, Rab GDP-dissociation inhibitor beta and histidine triad nucleotide-binding protein in fetal Down Syndrome brain.- Alteration of gene expression in Down’s syndrome (DS) brains: its significance in neurodegeneration.
