Clinical Mitochondrial Medicine

Download or read book Clinical Mitochondrial Medicine written by Patrick F. Chinnery and published by Cambridge University Press. This book was released on 2018-05-17 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt: This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.

Download or read book Mitochondrial Disease Genes Compendium written by Marni J. Falk and published by Academic Press. This book was released on 2020-04-29 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual's disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on 256 mitochondrial disease genes from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition.

Download or read book Mitochondrial Replacement Techniques written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2016-04-17 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial replacement techniques (MRTs) are designed to prevent the transmission of mitochondrial DNA (mtDNA) diseases from mother to child. While MRTs, if effective, could satisfy a desire of women seeking to have a genetically related child without the risk of passing on mtDNA disease, the technique raises significant ethical and social issues. It would create offspring who have genetic material from two women, something never sanctioned in humans, and would create mitochondrial changes that could be heritable (in female offspring), and therefore passed on in perpetuity. The manipulation would be performed on eggs or embryos, would affect every cell of the resulting individual, and once carried out this genetic manipulation is not reversible. Mitochondrial Replacement Techniques considers the implications of manipulating mitochondrial content both in children born to women as a result of participating in these studies and in descendants of any female offspring. This study examines the ethical and social issues related to MRTs, outlines principles that would provide a framework and foundation for oversight of MRTs, and develops recommendations to inform the Food and Drug Administration's consideration of investigational new drug applications.

Download or read book Mitochondrial Medicine written by Saskia Koene and published by . This book was released on 2011 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Mitochondrial Dysfunction written by Lawrence H. Lash and published by Elsevier. This book was released on 2013-10-22 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnormal mitochondrial function in cell injury. The book discusses the methods for the preparation and basic functional assessment of mitochondria from liver, kidney, muscle, and brain; the methods for assessing mitochondrial dysfunction in vivo and in intact organs; and the structural aspects of mitochondrial dysfunction are addressed. The text also describes chemical detoxification and metabolism as well as specific metabolic reactions that are especially important targets or indicators of damage. The methods for measurement of alterations in fatty acid and phospholipid metabolism and for the analysis and manipulation of oxidative injury and antioxidant systems are also considered. The book further tackles additional methods on mitochondrial energetics and transport processes; approaches for assessing impaired function of mitochondria; and genetic and developmental aspects of mitochondrial disease and toxicology. The text also looks into mitochondrial DNA synthesis, covalent binding to mitochondrial DNA, DNA repair, and mitochondrial dysfunction in the context of developing individuals and cellular differentiation. Microbiologists, toxicologists, biochemists, and molecular pharmacologists will find the book invaluable.

Download or read book Mitochondrial Medicine written by Anna Gvozdjáková and published by Springer Science & Business Media. This book was released on 2008-02-01 with total page 446 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial medicine deals with diseases that are related to mitochondrial dysfunction due to a number of causes from free radical damage to genetic mutation. This book is based on extensive data gathered over 30 years of clinical and experimental research. In it, internationally recognized authors share their experience in various fields of their expertise and guide readers through the disease process, from basic biochemical mechanisms to diagnosis to therapeutic aspects.

Download or read book Clinical Bioenergetics written by Sergej M. Ostojic and published by Academic Press. This book was released on 2020-11-12 with total page 720 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Bioenergetics: From Pathophysiology to Clinical Translation provides recent developments surrounding the etiology and pathophysiology of inherited and acquired energy-delated disorders. Across 40 chapters, world leaders in bioenergetics and mitochondrial medicine discuss novel methodologies designed to identify deficiencies in cellular bioenergetics, as well as the safety and efficacy of emerging management strategies to address poor cellular bioenergetics. Topics discussed include the omics landscape of impaired mitochondrial bioenergetics, hormones, tissue bioenergetics and metabolism in humans. Disease-specific case studies, modes of analysis in clinical bioenergetics, and therapeutic opportunities for impaired bioenergetics, addressing both known treatment pathways and future directions for research, are discussed in-depth. Diseases and Disorders examined include brain injury, chronic fatigue syndrome, psychiatric disorders, pulmonary fibrosis, neurodegenerative disorders, heart failure, chronic kidney disease, obesity, and insulin resistance, among others. - Provides a thorough discussion of foundational aspects of bioenergetics and disease, modes of analysis, and treatments for impaired bioenergetics - Discusses the role of bioenergetics and treatment pathways in brain injury, chronic fatigue syndrome, psychiatric disorders, pulmonary fibrosis, neurodegenerative disorders, heart failure, chronic kidney disease, obesity, and insulin resistance, among other diseases and disorders - Features chapter contributions from international leaders in translational bioenergetics research and clinical practice