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Overview
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.
Synopsis
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.