Download or read book The Human Mitochondrial Genome written by Giuseppe Gasparre and published by Academic Press. This book was released on 2020-07-23 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Human Mitochondrial Genome: From Basic Biology to Disease offers a comprehensive, up-to-date examination of human mitochondrial genomics, connecting basic research to translational medicine across a range of disease types. Here, international experts discuss the essential biology of human mitochondrial DNA (mtDNA), including its maintenance, repair, segregation, and heredity. Furthermore, mtDNA evolution and exploitation, mutations, methods, and models for functional studies of mtDNA are dealt with. Disease discussion is accompanied by approaches for treatment strategies, with disease areas discussed including cancer, neurodegenerative, age-related, mtDNA depletion, deletion, and point mutation diseases. Nucleosides supplementation, mitoTALENs, and mitoZNF nucleases are among the therapeutic approaches examined in-depth. With increasing funding for mtDNA studies, many clinicians and clinician scientists are turning their attention to mtDNA disease association. This book provides the tools and background knowledge required to perform new, impactful research in this exciting space, from distinguishing a haplogroup-defining variant or disease-related mutation to exploring emerging therapeutic pathways. Fully examines recent advances and technological innovations in the field, enabling new mtDNA studies, variant and mutation identification, pathogenic assessment, and therapies Disease discussion accompanied by diagnostic and therapeutic strategies currently implemented clinically Outlines and discusses essential research protocols and perspectives for young scientists to pick up Features an international team of authoritative contributors from basic biologists to clinician-scientists
Download or read book Mitochondrial DNA Mitochondria Disease and Stem Cells written by Justin C. St. John and published by Springer Science & Business Media. This book was released on 2012-09-26 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume investigates how the mitochondrial genome is transmitted, segregated, and inherited. It starts by describing mtDNA mutations and deletions and how these impact on the offspring’s well-being. It progresses to discuss how mutations to the mtDNA-nuclear-encoded transcription, replication and translational factors lead to mtDNA-depletion syndromes and how these affect cellular function and lead to the pathology of human mitochondrial disease. It also highlights the importance of the mitochondrial assembly factors and how mutations to these can lead to mitochondrial disease. The reader is then introduced to how mtDNA is transmitted through the oocyte and how stem cells can be used to study mitochondrial biogenesis and mtDNA replication and transcription in undifferentiated pluripotent and differentiating cells and how mitochondria adapt during this process. It then discusses how diseases like cancer are initiated and regulated by mutations to mitochondrial DNA and dysfunctional mitochondria. Finally, it draws on assisted reproductive technologies to discuss how some of these approaches might be adapted to prevent the transmission of mutant and deleted mtDNA from one generation to the next.
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 Human Mitochondrial DNA and the Evolution of Homo sapiens written by Hans-Jürgen Bandelt and published by Springer Science & Business Media. This book was released on 2006-09-05 with total page 276 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial DNA is one of the most closely explored genetic systems, because it can tell us so much about the human past. This book takes a unique perspective, presenting the disparate strands that must be tied together to exploit this system. From molecular biology to anthropology, statistics to ancient DNA, this first volume of three presents a comprehensive global picture and a critical appraisal of human mitochondrial DNA variation.
Download or read book Mitochondrial Medicine written by Salvatore DiMauro and published by CRC Press. This book was released on 2006-04-19 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently available in different specialties - thus making it essential reading for clinicians involved with the management of patients with mitochondrial diseases. A unique work, this text covers a range of specialties, including cardiology, ophthalmology, otology, nephrology, gastroenterology, hematology-oncology, and reproductive medicine, and does not focus exclusively on the more commonly known neurologic conditions. An accessible, user-friendly text, it also presents translational concepts of mitochondrial biogenesis and genetics in vignettes related to specific questions raised by the disease under discussion, rather than concentrating on basic science, which can often intimidate clinicians. This pioneering work is primarily directed to a clinical audience who are interested in the diverse and diagnostically challenging clinical presentations of mitochondrial diseases and their pathophysiology.
Download or read book Mitochondrial DNA written by William C. Copeland and published by Springer Science & Business Media. This book was released on 2008-02-04 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mutations within mitochondrial DNA (mtDNA) and the nuclear genes involved in the maintenance of mitochondrial DNA have been linked to a wide range of human diseases, including several of the most common diseases of aging. In Mitochondrial DNA: Methods and Protocols internationally recognized authorities describe in great detail the methods they have perfected to analyze mtDNA and the proteins involved in its maintenance. The analytical techniques cover the purification of mtDNA from a variety of sources and the analysis of DNA for both deletions, point mutations, and damage, for replication intermediates, and for following the fate of mtDNA outside of the mitochondria. Additional analytical methods are presented for analyzing the proteins and enzymes that maintain mtDNA. Each readily reproducible protocol includes step-by-step instructions, tips on avoiding pitfalls and extending the method to other situation, and introductory material explaining the theory behind the process. Comprehensive and timely, Mitochondrial DNA: Methods and Protocols offers both basic and clinical researchers proven cutting-edge methods for analyzing the role mtDNA plays in the aging process, apoptosis, and possibly some cancers, and for investigating the cause of mitochondrial dysfunction and disease.
Download or read book Seven Daughters of Eve written by Bryan Sykes and published by W. W. Norton & Company. This book was released on 2002-05-17 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt: This national bestseller, now in paperback, reveals how all humans are descended from seven prehistoric women--the Seven Daughters of Eve.
Download or read book Medical and Health Genomics written by Dhavendra Kumar and published by Academic Press. This book was released on 2016-06-04 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems
Download or read book Mitochondrial Disorders Caused by Nuclear Genes written by Lee-Jun C. Wong and published by Springer Science & Business Media. This book was released on 2012-09-18 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell, every tissue, mitochondrial disorder usually affects multiple organs.
Download or read book Mitochondrial DNA written by Herve Seligmann and published by BoD – Books on Demand. This book was released on 2018-10-31 with total page 226 pages. Available in PDF, EPUB and Kindle. Book excerpt: The very short genomes of mitochondria summarize the complexity of molecular biology and its interactions with cellular and whole organism biology. Studies of mitogenomes contribute to the understanding of molecular biology and evolution, and to health management. Despite or even due to their small sizes, mitogenomes continue to surprise us. Studies of mitogenomes reveal the details of molecular organization and its evolution under constraints for miniaturization.
Download or read book Principles of Cloning written by Jose Cibelli and published by Academic Press. This book was released on 2013-09-24 with total page 572 pages. Available in PDF, EPUB and Kindle. Book excerpt: Principles of Cloning, Second Edition is the fully revised edition of the authoritative book on the science of cloning. The book presents the basic biological mechanisms of how cloning works and progresses to discuss current and potential applications in basic biology, agriculture, biotechnology, and medicine. Beginning with the history and theory behind cloning, the book goes on to examine methods of micromanipulation, nuclear transfer, genetic modification, and pregnancy and neonatal care of cloned animals. The cloning of various species—including mice, sheep, cattle, and non-mammals—is considered as well. The Editors have been involved in a number of breakthroughs using cloning technique, including the first demonstration that cloning works in differentiated cells done by the Recipient of the 2012 Nobel Prize for Physiology or Medicine – Dr John Gurdon; the cloning of the first mammal from a somatic cell – Drs Keith Campbell and Ian Wilmut; the demonstration that cloning can reset the biological clock - Drs Michael West and Robert Lanza; the demonstration that a terminally differentiated cell can give rise to a whole new individual – Dr Rudolf Jaenisch and the cloning of the first transgenic bovine from a differentiated cell – Dr Jose Cibelli. The majority of the contributing authors are the principal investigators on each of the animal species cloned to date and are expertly qualified to present the state-of-the-art information in their respective areas. First and most comprehensive book on animal cloning, 100% revised Describes an in-depth analysis of current limitations of the technology and research areas to explore Offers cloning applications on basic biology, agriculture, biotechnology, and medicine
Download or read book Mitochondrial DNA Mutations in Aging Disease and Cancer written by Keshav K. Singh and published by Springer Science & Business Media. This book was released on 2013-03-09 with total page 417 pages. Available in PDF, EPUB and Kindle. Book excerpt: Many human genetic diseases associated with blood, brain, colon, ear, eye, heart, kidney, liver, muscle, and pancreas are caused by mutations in mitochondrial DNA. Mutations in DNA can result in defects of the electron transport complexes, intermediates of the tricarboxylic acid cycle and substrate transport. The clinical manifestation of these diseases often involves muscle and the nervous system. Mitochondrial DNA mutations have now been associated with aging as well as age-related degenerative diseases such as Parkinson's, Alzheimer's, and Huntington's diseases. Changes in structure, function, and a number of mitochondria play an important role in carcinogenesis. Furthermore, the role of mitochondria in the execution of programmed cell death or apoptosis has been recognized recently.
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 Molecular Biology of The Cell written by Bruce Alberts and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Inherited Neuromuscular Diseases written by Carmen Espinós and published by Springer Science & Business Media. This book was released on 2010-03-11 with total page 311 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments.
Download or read book Mitochondrial Night written by Ed Bok Lee and published by Coffee House Press. This book was released on 2019-03-05 with total page 131 pages. Available in PDF, EPUB and Kindle. Book excerpt: Taking mitochondrial DNA as his guide, Lee explores familial and national legacies, and their persistence across shifting boundaries and the erosions of time. In these poems, the trait of an ancestor appears in the face of a newborn, and in her cry generations of women's voices echo. Stories, both benign and traumatic, travel as lore and DNA. Using lush, exact imagery, whether about the corner bar or a hilltop in Korea, Lee is a careful observer, tracking and documenting the way that seemingly small moments can lead to larger insights. From Mitochondrial Night: We’re drumming, he explained, in the tradition of shamans, so the ancestors won't be so lonely. Because spirits need us more than we need them. And for hours they’ll listen to anyone
Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
