Structural and Functional Repercussions of Loss of Function and Clinical Mutants of Presenilin


Book Description

Alzheimer's disease is a major health problem. The disease is clinically characterized by the progressive mental decline of the patients and pathologically by the accumulation of amyloid plaques and tangles and neurodegenerative changes in the brain. The cause of the disease remains unclear but in some cases, genetic (missense) mutations in the Amyloid Precursor Protein (APP) and in the Presenilin genes (PS1 & PS2) are sufficient to initiate the whole disease cascade. All these mutations cause in essence an increase in the generation or a change of the characteristics of the AB peptide making it more prone to produce amyloid plaques. The AB peptide is generated from the APP protein and the question how Presenilin influences APP processing and AB production is the main topic of our work.







Protein Trafficking in Neurons


Book Description

The efficient delivery of cellular constituents to their proper location is of fundamental importance for all cells and is of particular interest to neuroscientists, because of the unique functions and complex architecture of neurons. Protein Trafficking in Neurons examines mechanisms of protein trafficking and the role of trafficking in neuronal functioning from development to plasticity to disease. The book is divided into seven sections that review mechanisms of protein transport, the role of protein trafficking in synapse formation, exo- and endocytosis, transport of receptors, trafficking of ion channels and transporters, comparison of trafficking mechanisms in neuronal vs. non-neuronal cell types, and the relationship between trafficking and neuronal diseases such as Alzheimer's, Huntington's and Prion Diseases. - Provides a comprehensive examination of membrane/protein movement in neuronal function - Sections on synapse development, synaptic transmission, and the role of trafficking in neurological disease - Includes a focus on Molecular Mechanisms - Illustrated with color summary pictures - The only book examining protein trafficking and its functional implications, written by leaders in the field



















Functional Neurobiology of Aging


Book Description

Some well-known age-related neurological diseases include Parkinson's disease, Alzheimer's disease, deafness, and blindness. Even more common are the problems of aging which are not due to disease but to more subtle impairments in neurobiological systems, including impairments in vision, memory loss, muscle weakening, and loss of reproductive functions, changes in body weight, and sleeplessness. As the average age of our society increases, diseases of aging continue to become more common, and conditions associated with aging need more attention by doctors and researchers. In 1991, patients over the age of 65 saw their doctors an average of eight times per year. Research funding is provided by the Neuroscience and Neuropsychology of Aging (NNA) Program, which is run by the National Institute on Aging. This book offers a comprehensive overview of all topics related to functional impairments which are related to the aging brain and nervous system. It is organized according to four general functions: movement, senses, memory, and neuroendocrine regulation. Written by the leading researchers in the field, this comprehensive work addresses both impairments associated with diseases and not associated with diseases, making it easier to understand the mechanisms involved. Functional Neurobiology of Aging is an important reference for professionals and students involved in aging research, as well as physicians who need to recognize and understand age-related impairments. - Organized by function, making it easy to find and understand the material - Addresses impairments both associated with diseases and not associated with diseases - Written by leading researchers in the field - Most comprehensive source of information on the neurobiology of aging




Genetic Variation and Environmental Factors in Biological and Arterial Ageing


Book Description

Ageing, the decline in survival and bodily functions, caused by damage to macromolecules and tissues is intrinsically linked to life. Although universal and unavoidable, ageing does not occur in a uniform way. In the general population, it is actually a continuously distributed phenotype, in which genetic as well as environmental factors play an interactive role and explain the large interindividual differences between biological and chronological age. Cardiovascular disorders, which find there origins in deterioration of the structure and function of the large arteries, explain a large part of morbidity and mortality in industrialized societies. In this doctoral dissertation, the focus was on telomere length and arterial stiffness as biomarkers of biological and arterial ageing, respectively. It was investigated to what extent genetic and environmental determinants of oxidative stress and inflammation impact on the ageing process. Contents include: Introduction, Arterial ageing in cardiovascular risk prediction, Genetic and environmental factors in biological and arterial ageing, Telomere length and possible link to X chromosome, Role of smoking, oxidative stress and the -174 G/C interleukin-6 polymorphism in biological and vascular ageing, Environmental factors in arterial ageing, Blood pressure and blood selenium: a cross-sectional and a longitudinal population study, Endothelial function and outdoor temperature, General Discussion, Summary, Short Curriculum Vitae.