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 2012-09-27 with total page 193 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 DNA and Diseases written by Hongzhi Sun and published by Springer. This book was released on 2017-11-25 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book describes molecular principles and mechanisms by which mitochondrial DNA (mtDNA) can drive the occurrence of diseases and the latest understanding of mtDNA biology. The book explores roles of mtDNA mutation and genetic changes in cancer, with a special focus on lung cancer, and the significance of approach, application, and bioethics of mtDNA sequencing. Authors made a great effort to overview roles of mtDNA signaling pathways, base excision repair, methylation, USP30-mediated regulation, mitochondrial ribosome, autophagy pathways, or ROS-dependent signaling in the pathogenesis, diagnosis, prevention and treatment of diseases. It also demonstrates the importance of basic mitochondrial genetics and the relationship between mutations and disease phenotypes and ageing. This book covers not only the basic information of mtDNA, the relationship of mtDNA and disease, but also mtDNA in stem cell and mitochondria and metabolism etc. The book is written for biological and clinical students and researchers in the field of mtDNA–associated diseases.
Download or read book Mitochondrial Regulation written by Carlos M. Palmeira and published by Humana. This book was released on 2021-06-08 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fully updated edition explores the different pathways that converge into the regulation of mitochondrial function. The book integrates mitochondria with other cellular components, discussing the dynamic properties of mitochondria with an emphasis on how these processes respond to signaling events and how they affect cellular metabolism. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and up-to-date, Mitochondrial Regulation: Methods and Protocols, Second Edition is an ideal guide for advanced undergraduates, graduates, postgraduates, and beginning researchers in the areas of molecular and cellular biology, biochemistry, and bioenergetics.
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 Cellular and Molecular Basis of Mitochondrial Inheritance written by Peter Sutovsky and published by Springer. This book was released on 2019-05-09 with total page 126 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new volume of our successful book series Advances in Anatomy, Embryology and Cell Biology is focused on mitochondrial inheritance in humans and both vertebrate and invertrebate animals including Drosophila, C. elegans, bivalve molusc Mytilus and livestock mammals. Special consideration is given to cellular mechanisms promoting uniparental inheritance of mitochondria and mitochondrial genes, evolutionary perspectives, and biomedical and epidemiological considerations. Contributed by five distinguished mitochondrial research teams from around the world, this volume will target a wide audience of physiologists, anatomists, cell, and developmental and evolutionary biologists, as well as physicians, veterinarians, livestock specialists and biomedical researchers.
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 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 Dysfunction in Ageing and Diseases written by Jaime M. Ross and published by MDPI. This book was released on 2018-09-28 with total page 543 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a printed edition of the Special Issue "Mitochondrial Dysfunction in Ageing and Diseases" that was published in IJMS
Download or read book Mitochondrial Disorders written by Claude Desnuelle and published by Springer Science & Business Media. This book was released on 2013-12-01 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: The concept of mitochondrial diseases originated in 1962 with the description by Luft and coworkers of a patient with nonthyroidal hypermetabolism due to loose coupling of oxidation and phosphorylation in muscle mitochondria. Over the following quarter of a century, thanks to W. King Engel's "ragged-red fibres" as convenient markers for mitochondrial pathology, numerous papers described clinical, morphological, and biochemical features of "mitochondrial myopathies." In 1988 the discovery of mutations in mitochondrial DNA led to an explosive expansion of research into mitochondrial disorders. Throughout the 1990s the rapid identification of multiple mitochondrial gene defects associated with clinically diverse disorders has left practitioners puzzled about diagnosing such heterogeneous and complex syndromes. Through updated data, this book discusses now what Luft aptly called "mitochondrial medicine." In so doing, it considers the pivotal role of mitochondria in drug sensitivity, their key roles in ageing, apoptosis, and neurodegeneration along with primary mitochondrial diseases due to mutations in the nuclear genome, in the mitochondrial genome, or in the cross-talk between the two genomes.
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 Aging written by L. Robert and published by Karger Medical and Scientific Publishers. This book was released on 2014-05-16 with total page 226 pages. Available in PDF, EPUB and Kindle. Book excerpt: Aging inspired a large number of theories trying to rationalize the aging process common to all living beings. In this publication the most important environmental and intrinsic mechanisms involved in the aging process and in its pathological consequences are reviewed. Furthermore theoretical and experimental evidence of the most important theoretical elements based on Darwinian evolution, cellular aging, role of cell membranes, free radicals and oxidative processes, receptor-mediated reactions, the extracellular matrix and immune functions as well as the most important environmental and intrinsic mechanisms involved in the aging process and in its pathological consequences are discussed. These presentations of theories and related experimental facts give a global overview of up to date concepts of the biology of the aging process and are of essential reading not only for specialists in this field but also for practitioners of scientific, medical, social and experimental sciences.
Download or read book Manual of Intracytoplasmic Sperm Injection in Human Assisted Reproduction written by Gianpiero D. Palermo and published by Cambridge University Press. This book was released on 2021-11-25 with total page 175 pages. Available in PDF, EPUB and Kindle. Book excerpt: For around half of the couples who have trouble conceiving the cause of infertility is sperm-related. Intracytoplasmic sperm injection (ICSI) is the most common and successful treatment for male infertility. Here, the pioneers for the technique, along with authorities in the field, describe the underlying science of ICSI and other micromanipulation techniques. Practical advice for performing the techniques is covered in depth, including sperm selection, laser-assisted ICSI, and the use of piezo in ICSI. Examining the safety of ICSI in animal models as well as the impact of ICSI on the health and well-being of the children conceived through the procedure is discussed. This manual is an essential resource for clinical embryologists and laboratory personnel wishing to refine or develop techniques and improve outcomes.
Download or read book The Human Mitochondrial Genome written by Giuseppe Gasparre and published by Academic Press. This book was released on 2020-08-19 with total page 594 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 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 Mitochondria and Their Role in Cardiovascular Disease written by José Marín-García and published by Springer Science & Business Media. This book was released on 2012-11-19 with total page 495 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past two decades, due to dramatic advances in molecular and cell biology, biochemistry, and genetics, our view on mitochondria as a relatively static cellular powerhouse has changed radically. We now know that these organelles play a critical role in the normal and in the damaged heart. Written by Dr. José Marín-García, Director of the Molecular Cardiology and Neuromuscular Institute, Mitochondria and Their Role in Cardiovascular Disease brings readers up- to-date on the many significant advances in the field of mitochondrial cardiovascular medicine. The book begins with a general introduction to mitochondria, followed by laboratory methods to study the structure and function of the organelle, regulation of replication and biogenesis, and the mechanisms and functional consequences of mitophagia and mitochondrial dynamics. Subsequent chapters deal with mitochondrial oxidative stress and the role that the organelle plays in cell signaling and cell death. Discussions will be undertaken on the biochemistry of mitochondrial cell signaling, including the nature of the proteins engaged in these processes, many of them only recently discovered. Later chapters examine the role of mitochondria and mitochondrial abnormalities in cardiovascular diseases, including their diagnosis, therapeutic options currently available, animal models of mitochondrial disease, and new frontiers in mitochondria cardiovascular medicine, including areas of research that are relatively new or developing, such as proteomics, next generation sequencing, and systems biology.
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.
Download or read book Mitochondrial DNA written by Shiv Sanjeevi and published by Delve Publishing. This book was released on 2019-11 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial DNA: The Works takes into account the overview of mitochondria along with its dna and inheritance. It also comprises the interest aspects and glimpses of research related to the mitochondrial dna. It provides the reader with the insights of mitochondrial dna and its interesting aspects so as to understand the advances in methods for reducing mitochondrial dna disease by replacing or manipulating the mitochondrial genome, reaction of human cells in the absence of mitochondrial dna and variants of mitochondrial dna in case of obesity. This book also discusses about regulation of mitochondrial genome inheritance by autophagy and ubiquitin-proteasome system: implications for health, fitness, and fertility, advances in methods for reducing mitochondrial dna disease by replacing or manipulating the mitochondrial genome, mitochondrial dna variants in obesity and research on plants for the understanding of diseases of nuclear and mitochondrial origin.
