-PDF Download- Mitochondrial Dna EBOOK

The Human Mitochondrial Genome

Author: Giuseppe Gasparre

Publisher: Academic Press

Published: 2020-07-23

Total Pages: 596

ISBN-13: 0128226420

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

Mitochondrial DNA, Mitochondria, Disease and Stem Cells

Author: Justin C. St. John

Publisher: Springer Science & Business Media

Published: 2012-09-26

Total Pages: 190

ISBN-13: 1627031014

DOWNLOAD EBOOK →

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.

Mitochondrial DNA Mutations in Aging, Disease and Cancer

Author: Keshav K. Singh

Publisher: Springer Science & Business Media

Published: 2013-03-09

Total Pages: 417

ISBN-13: 3662125099

DOWNLOAD EBOOK →

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.

Mitochondrial Replacement Techniques

Author: National Academies of Sciences, Engineering, and Medicine

Publisher: National Academies Press

Published: 2016-04-17

Total Pages: 201

ISBN-13: 0309388708

DOWNLOAD EBOOK →

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.

Human Mitochondrial DNA and the Evolution of Homo sapiens

Author: Hans-Jürgen Bandelt

Publisher: Springer Science & Business Media

Published: 2006-09-05

Total Pages: 276

ISBN-13: 3540317899

DOWNLOAD EBOOK →

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.

Mitochondrial Medicine

Author: Salvatore DiMauro

Publisher: CRC Press

Published: 2006-04-19

Total Pages: 368

ISBN-13: 9781842142882

DOWNLOAD EBOOK →

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.

Mitochondrial DNA

Author: William C. Copeland

Publisher: Springer Science & Business Media

Published: 2008-02-04

Total Pages: 415

ISBN-13: 1592592848

DOWNLOAD EBOOK →

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.

Seven Daughters of Eve

Author: Bryan Sykes

Publisher: W. W. Norton & Company

Published: 2002-05-17

Total Pages: 324

ISBN-13: 9780393323146

DOWNLOAD EBOOK →

This national bestseller, now in paperback, reveals how all humans are descended from seven prehistoric women--the Seven Daughters of Eve.

Medical and Health Genomics

Author: Dhavendra Kumar

Publisher: Academic Press

Published: 2016-06-04

Total Pages: 358

ISBN-13: 0127999221

DOWNLOAD EBOOK →

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

Mitochondrial DNA

Author: Herve Seligmann

Publisher: BoD – Books on Demand

Published: 2018-10-31

Total Pages: 226

ISBN-13: 1789842654

DOWNLOAD EBOOK →

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.