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




The Neurobiology of Aging and Alzheimer Disease in Down Syndrome


Book Description

The Neurobiology of Aging and Alzheimer Disease in Down Syndrome provides a multidisciplinary approach to the understanding of aging and Alzheimer disease in Down syndrome that is synergistic and focused on efforts to understand the neurobiology as it pertains to interventions that will slow or prevent disease. The book provides detailed knowledge of key molecular aspects of aging and neurodegeneration in Down Syndrome by bringing together different models of the diseases and highlighting multiple techniques. Additionally, it includes case studies and coverage of neuroimaging, neuropathological and biomarker changes associated with these cohorts. This is a must-have resource for researchers who work with or study aging and Alzheimer disease either in the general population or in people with Down syndrome, for academic and general physicians who interact with sporadic dementia patients and need more information about Down syndrome, and for new investigators to the aging and Alzheimer/Down syndrome arena. - Discusses the complexities involved with aging and Alzheimer's disease in Down syndrome - Summarizes the neurobiology of aging that requires management in adults with DS and leads to healthier aging and better quality of life into old age - Serves as learning tool to orient researchers to the key challenges and offers insights to help establish critical areas of need for further research




Preclinical Research in Down Syndrome: Insights for Pathophysiology and Treatments


Book Description

Preclinical Research in Down Syndrome: From Bench to Bedside, Volume 251, the latest release in the Progress in Brain Research series, highlights new advances in the field. Chapters in this updated release include Exploring genetic and epigenetic mechanisms underlying cognitive deficits in Dow syndrome, The trisomy paradox: gene expression dysregulation domains, the Influence of allelic differences in mouse models of Down syndrome, Modelling Down syndrome in cells: From stem cells to organoids, Modelling Down syndrome in animals from the early stage to the new generation of models, Mapping behavioral landscapes in Down syndrome animal models, and more. - Presents content by renowned authors who review the state-of-the-art in preclinical research and provide their views and perspectives for the future of the field - Provides extensively referenced chapters, thus giving readers a comprehensive list of resources on topics covered - Includes comprehensive and in-depth background information written in a clear form that is accessible to both specialists and non-specialists




Focus on Medical Genetics and Down's Syndrome Research


Book Description

Medical Genetics is the application of genetics to medicine. Medical genetics is broad and varied and encompasses many different individual fields, including clinical genetics, biochemical genetics, cytogenetics, molecular genetics, the genetics of common diseases (such as neural tube defects), and genetic counselling. Each of the individual fields within medical genetics is a hybrid. Clinical genetics is a hybrid of clinical medicine with genetics. Biochemical genetics is a hybrid of biochemistry, mainly the biochemistry of amino acids and proteins, with genetics. Molecular genetics is a hybrid of the biochemistry of DNA and RNA with genetics. Cytogenetics is a hybrid of cytology and genetics; it involves the study of chromosomes under the microscope. And genetic counselling is a hybrid of genetics with non-directional counselling. This book presents leading-edge research on medical genetics as well as on Down's syndrome.




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.







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.




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.