The Molecular Biology of Down Syndrome


Book Description

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.




Down Syndrome: From Understanding the Neurobiology to Therapy


Book Description

Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. - Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research - Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered - All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist




Molecular Genetics of Chromosome 21 and Down Syndrome


Book Description

In recent years, the molecular analysis of chromosome 21 has progressed so rapidly that the current level of sophistication in understanding the organization of its genes and DNA sequences perhaps exceeds that of any other chromosome. This book explores the fundamental nature of this condition's pathology as related to the structure and expression of genes that are known to be critical in the development of Down Syndrome. It recounts the impressive advances made toward a complete physical mapping of chromosome 21. It also discusses how individual genes in this chromosome have been isolated and their effects relevant to aspects of Down Syndrome are being studied in both cellular and in vivo models. This text provides a comprehensive account of the most up-to-date research in this area, and offers a general overview of the advances in molecular analysis techniques that are revolutionizing the entire field of chromosomal mapping.




Advances in Down Syndrome Research


Book Description

"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.




Down Syndrome


Book Description

This book presents Down syndrome, which is the most common chromosomal disorder in humans, occurring at a rate of about 1 in 700 births. It describes the characteristic physical features caused by Down syndrome and the myriad of symptoms and health complications it brings, including heart defects, congenital vision and hearing loss, abnormalities of the musculoskeletal system, digestive problems, epilepsy, leukemia, an increased risk of infectious disease, dementia, and intellectual disability. Readers will learn about methods by which Down syndrome can be diagnosed prenatally or at birth, and the cause of Down syndrome as extra copies of the approximately 250 genes on chromosome 21. The book describes treatments and therapies for Down syndrome, and approaches to the education of children with it. Future prospects for the diagnosis and treatment of Down syndrome are presented, including experimental drugs, stem cell therapies, a process by which embryos produced in a clinical laboratory can be screened for Down syndrome before being used to establish a preg­nancy, and several Down syndrome gene therapy strategies.




Genetics and Etiology of Down Syndrome


Book Description

This book provides a concise yet comprehensive source of current information on Down syndrome. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. This book has been divided into four sections, beginning with the Genetics and Etiology and ending with Prenatal Diagnosis and Screening. Inside, you will find state-of-the-art information on: 1. Genetics and Etiology 2. Down syndrome Model 3. Neurologic, Urologic, Dental







Down Syndrome


Book Description

Down syndrome, the most cutting-edge book in the field congenital disorders. This book features up-to-date, well referenced research and review articles on Down syndrome. Research workers, scientists, medical graduates and pediatricians will find it to be an excellent source for references and review. It is hoped that such individuals will view this book as a resource that can be consulted during all stages of their research and clinical investigations. Key features of this book are: Common diseases in Down syndrome Molecular Genetics Neurological Disorders Prenatal Diagnosis and Genetic Counselling Whilst aimed primarily at research workers on Down syndrome, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be of interest to a wider audience, especially parents, relatives and health-care providers who work with infants and children with Down syndrome.