The Human Mitochondrial Genome

Book Description :

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

Book Description :

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

Book Description :

Download The Evolution of Human Mitochondrial DNA book written by Rebecca Louise Cann, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

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.

Book Description :

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.

Book Description :

Download Molecular Biology of the Cell book written by Bruce Alberts, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

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.

Book Description :

Download Mitochondrial Gene Expression book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

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.

Book Description :

Known as the energy powerhouses of the cell, mitochondria carry their own genomes, and encode for key cellular respiration proteins. Carrying multiple copies per cell, a given mitochondrial DNA (mtDNA) variant can be present at varying proportions, termed heteroplasmy. MtDNA is acquired exclusively through maternal inheritance and becomes stochastically replicated and segregated into dividing mitochondria over an organism's lifespan. An individual's constellation of mtDNA variants and their respective heteroplasmy levels can therefore change in response to selective pressures in somatic cells and/or selection that takes place during germline transmission. MtDNA aberrations are associated with many disorders, including cancer. Although mitochondrial genomes accumulate elevated mutation rates in cancer cells, the origin and functional impact of these mutations remain controversial. Here, we queried whole-genome sequencing data from 1,916 patients across 24 cancer types to characterize patterns of mtDNA mutations and elucidate the selective constraints driving their fate. We also tracked changes in per-cell abundances of mtDNA mutations from normal to tumor cells in the same patient. Tumor mitochondrial genomes show distinct mutational patterns and are disproportionately enriched for protein-altering changes. Moreover, protein-altering mtDNA variants that are initially present at low frequencies in normal cells preferentially expand in the altered tumor environment, suggesting selective advantage. Renal chromophobe and thyroid cancers show strong signals of positive selection with higher proportions and per-cell abundances of truncating mtDNA variants. Dramatic tumor- and tissue-specific variations in selective pressures suggest that cancer cells with advantageous levels of damaged mitochondrial genomes will selectively proliferate to facilitate the tumorigenic process.We also cataloged mitochondrial sequence variants and gene expression across 927 cancer cell lines from the Cancer Cell Line Encyclopedia (CCLE). We used this data to create a novel computational method called DoReMi (Donor, Recipient Mitochondrial DNA matching). DoReMi scores candidate mtDNA donor and recipient cell lines for cybridization experiments, which help identify the role of mtDNA variants in-vitro under a controlled nuclear genetic background. This tool allows researchers to design optimized cybrid experiments for querying the role of mutations in their mitochondrial-encoded gene of interest. Researchers may also apply DoReMi to study their own cell lines of interest.

Book Description :

Download Investigation of Human Mitochondrial DNA Abnormality in Colon Cancer book written by Mansoureh Akouchekian, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

Dr. Harris has played a major role in the development of this organism as a model system. Her previous version of the Chlamydomonas Sourcebook which published in 1989, has been a classic in the field and is considered required reading for anyone working with this organism. This latest edition has been expanded to include three volumes providing molecular techniques, analysis of the recently sequenced genome, and reviews of the current status of the diverse fields in which Chlamydomonas is used as a model organism. Methods for Chlamydomonas research and best practices for applications in research, including methods for culture, preservation of cultures, preparation of media, lists of inhibitors and other additives to culture media, are included. Additions to this volume also include help with common laboratory problems such as contamination, student demonstrations, and properties of particular strains and mutants. This volume is part of a 3-Volume Set (ISBN: 978-0-12-370873-1) and is also sold individually. Expanded revision of gold standard reference Includes latest advances in research, including completion of the genome Provides broad perspective with studies in cell and molecular biology, genetics, plant physiology and related fields Available as part of a 3-Volume Set or sold individually

Book Description :

Human mitochondrial DNA is a distinct, compact genetic system that encodes proteins crucial for energy metabolism in the cell. Due to its reduced size and relatively simple organisation, all the regulatory factors directing the expression of the mitochondrial genome are encoded by nuclear DNA. It is evident that mitochondrial gene expression is regulated at different levels, which is reflected by the numerous diseases associated with mutations in both nuclear and mitochondrial DNA-encoded mitochondrial proteins. Research focusing on the identification and characterisation of RNA-binding proteins as regulators of mitochondrial function is ongoing. However, the components and mechanisms involved in the post-transcriptional regulation of mitochondrial DNA are not well understood. The aim of this research project was to investigate different aspects of the regulation of human mitochondrial gene expression via the direct action of nuclear-encoded mitochondrial proteins on RNA metabolism. First, I validated the proteins responsible for 5' end processing of mitochondrial precursor transcripts and identified the protein responsible for 3' end processing cleavage, showing that they are important for mitochondrial function. Next, I studied a previously uncharacterised mitochondrial ribosomal subunit protein and found that it is an important factor in the regulation of protein synthesis. Finally, I examined a protein that has multiple and independent functions in the organelle and identified it as a new target for the estrogenic modulation of mitochondrial gene expression via the estrogen receptor alpha. Both the nuclear and the mitochondrial genomes contribute to the mitochondrial proteome and hence to mitochondrial function. Because mitochondria possess a genome that is central to multiple cellular functions, understanding the different levels and mechanisms involved in the regulation of mitochondrial gene expression is essential in elucidating the contribution of mitochondrial dysfunction to human disease.

Book Description :

Nearly thirty million species of organisms are believed to now live on Earth. In addition to accumulating evidence from classical biology, paleontology and earth science, the recent progress of molecular biology has provided new insights into understanding how present-day organisms have evolved with such tremendous diversity. Molecular biological studies show us that all living forms, including E. coli and human beings, derive from a single ancestor that emerged some 4 billion years ago on Earth. This volume aims to discuss the motifs of organismic evolution from the viewpoints of biogeo-interactions and diversification of the genetic systems. Based on these fundamental understandings, the last section of this volume is devoted to human evolution that includes phylogeny of man as well as evolution of human culture. Such comprehensive discussion will give us a synthesized view of the evolution of life, that is undoubtedly one of the most important problems not only for science but also for human culture in general.

Book Description :

This book provides a detailed evidence-based overview of the latest developments in how the structure of the human genome is relevant to the health professional. It features comprehensive reviews of genome science including human chromosomal and mitochondrial DNA structure, protein-coding and noncoding genes, and the diverse classes of repeat elements of the human genome. These concepts are then built upon to provide context as to how they functionally relate to differences in phenotypic traits that can be observed in human populations. Guidance is also provided on how this information can be applied by the medical practitioner in day-to-day clinical practice. Human Genome Structure, Function and Clinical Considerations collates the latest developments in genome science and current methods for genome analysis that are relevant for the clinician, researcher and scientist who utilises precision medicine techniques and is an essential resource for any such practitioner.

Book Description :

Download Human Mitochondrial DNA Evolution in Papua New Guinea book written by Mark Allen Stoneking, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

In 1994 Professor Bryan Sykes, a leading world authority on DNA and human evolution, was called in to examine the frozen remains of a man trapped in glacial ice in northern Italy. News of the discovery of the Ice Man and his age, which was put at over five thousand years old, fascinated the world. But what made the story particularly extraordinary was that Professor Sykes was also able to track down a living generic relative of the Ice Man, a woman living in Britain today. How was he able to locate a living relative of a man who died thousands of years ago? In The Seven Daughters of Eve, Bryan Sykes gives us a first hand account of his research into a remarkable gene which passes undiluted from generation to generation through the maternal line and shows how it is being used to track our genetic ancestors through time and space. After plotting thousands of DNA sequences from all over the world he found that they had clustered around a handful of distinct groups. In Europe there are only seven. The conclusion: almost everyone of native European descent, wherever they live in the world, can trace their ancestry back to one of seven women, the Seven Daughters of Eve. He has named them Ursula, Xenia, Helena, Velda, Tara, Katrine and Jasmine. In this remarkable scientific adventure story we learn exactly how our origins can be traced, how and where our ancient genetic ancestors lived, what their live were like and how we are each living proof of the almost miraculous strength of our DNA which has survived and prospered over so many thousands of years to reach us today. It is a book that not only presents the story of our evolution in a wholly new light, but also strikes right at the heart of ourselves as individuals and of our sense of identity.

Book Description :

Mitochondrial diseases comprise a clinically and genetically heterogeneous group of rare disorders that may affect virtually any system of the body at any age. Due to their complexity, understanding and diagnosing these diseases requires a multidisciplinary approach. This book provides an update on the major features of human mitochondrial diseases: genetic bases, pathophysiology, diagnosis, and treatment, and of the new technologies involved in the diagnosis and on the characterization of patients. The 11 chapters examine the unique complex interactions between the mitochondrial and the nuclear genomes involved in the biogenesis and the regulation of the mitochondrial respiratory chain, and their relevance to human disease. We discuss the traditional biochemical and genetic approaches, as well as the new omic technologies, and the cellular and animal models used in mitochondrial research. The last chapter is dedicated to the current treatment options. Authors are worldwide experts in these fields and integrate expertise in both basic science and clinical research. This book is particularly important for both scientists and clinicians interested in the diagnosis and treatment of these diseases.

Book Description :

The past few years have witnessed a revolution in our ability to obtain DNA from ancient humans. This important new data has added to our knowledge from archaeology and anthropology, helped resolve long-existing controversies, challenged long-held views, and thrown up remarkable surprises. The emerging picture is one of many waves of ancient human migrations, so that all populations living today are mixes of ancient ones, and often carry a genetic component from archaic humans. David Reich, whose team has been at the forefront of these discoveries, explains what genetics is telling us about ourselves and our complex and often surprising ancestry. Gone are old ideas of any kind of racial âpurity.' Instead, we are finding a rich variety of mixtures. Reich describes the cutting-edge findings from the past few years, and also considers the sensitivities involved in tracing ancestry, with science sometimes jostling with politics and tradition. He brings an important wider message: that we should recognize that every one of us is the result of a long history of migration and intermixing of ancient peoples, which we carry as ghosts in our DNA. What will we discover next?

Book Description :

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