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Author: Keshav K. Singh Publisher: Springer Science & Business Media ISBN: 3662125099 Category : Science Languages : en Pages : 417
Book Description
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.
Author: Keshav K. Singh Publisher: Springer Science & Business Media ISBN: 3662125099 Category : Science Languages : en Pages : 417
Book Description
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.
Author: Hongzhi Sun Publisher: Springer ISBN: 9811066744 Category : Science Languages : en Pages : 230
Book Description
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.
Author: Giuseppe Gasparre Publisher: Academic Press ISBN: 0128226420 Category : Science Languages : en Pages : 596
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
Author: Stephen Bondy Publisher: Springer Science & Business Media ISBN: 1607616025 Category : Medical Languages : en Pages : 468
Book Description
Features that characterize the aging process include the gradual accumulation of cell damage after prolonged exposure to oxidative and inflammatory events over a lifetime. In addition to the accretion of lesions, the intrinsic levels of pro-oxidant and aberrant immune responses are elevated with age. These adverse events are often further enhanced by the chronic and slow progressing diseases that characterize the senescent brain and cardiovascular system. The incidence of some disorders such as Alzheimer's disease and vascular diseases are sufficiently prevalent in the extreme elderly that these disorders can arguably be considered "normal". Aging and Aging-Related Disorders examines the interface between normal and pathological aging, and illustrates how this border can sometimes be diffuse. It explores and illustrates the processes underlying the means by which aging becomes increasingly associated with inappropriate levels of free radical activity and how this can serve as a platform for the progression of age-related diseases. The book provides chapters that examine the interactive relationship between systems in the body that can enhance or sometimes even limit cellular longevity. In addition, specific redox mechanisms in cells are discussed. Another important aspect for aging discussed here is the close relationship between the systems of the body and exposure to environmental influences of oxidative stress that can affect both cellular senescence and a cell’s nuclear DNA. What may be even more interesting to note is that these external stressors are not simply confined to illnesses usually associated with aging, but can be evident in maturing and young individuals. A broad range of internationally recognized experts have contributed to this book. Their aim is to successfully highlight emerging knowledge and therapy for the understanding of the basis and development of aging–related disorders.
Author: Richard H. Haas Publisher: MDPI ISBN: 303921327X Category : Science Languages : en Pages : 268
Book Description
This collection of review articles authored by international experts pulls together current information about the role of mitochondria in aging and diseases of aging. Mitochondria are vitally important cellular organelles and undergo their own aging process becoming less efficient in aged animals including humans. These changes have wide-ranging significance contributing to immune dysfunction (autoimmunity and immune deficiency), inflammation, delayed healing, skin and retinal damage, cancer and most of the degenerative diseases of aging. Mitochondrial aging predisposes to drug toxicity in the geriatric population and to many of the features of normal aging. The research detailed in this book summarizes current understanding of the role of mitochondria in the complex molecular changes of aging, moving on to specific diseases of aging. Mitochondrial dysfunction is an important target for development of treatments for aging and disease. The last article details how exercise is a treatment and combats many features of the aging process.
Author: Mansoureh Akouchekian Publisher: Cuvillier Verlag ISBN: 3736927592 Category : Medical Languages : en Pages : 92
Book Description
The appearance of mtDNA abnormalities including deletions, duplications, insertions or combinations of them in colorectal cancer (CRC) patients was investigated in this work. Our result showed that 11 of 90 CRC patients had a 8.7 kb mtDNA deletion (12.2%) while this deletion was not found in 33 healthy controls. (P=0.035) We conclude that the 8.7 kb deletion can be a secondary effect of the cancer process, which is not inherited. This is the first report on large scale deletions in CRC. We also analyzed the correlation between cancers and mitochondrial haplogroups. The relationship between CRC and each of 9 major mitochondrial haplogroups were examined in Iranian CRC patients. This is the first study to trace mtDNA HVSI variants in CRC patients of the Persian population. Our data showed that patients with CRC have a significantly (P=0.001) higher frequency of haplogroup K (9.5%) when compared with controls (0%). The mitochondrial polymorphisms in haplogroup K might play a causative role in predisposing to CRC. Variations in the D-loop region were found in both CRC patients and healthy people but the frequency of SNPs in CRC patients was higher than in control samples. We found 13 new polymorphisms that had not been recorded in the mitochondrial database. We also detected one T→C transition at np16519 in 28 out of 40 patients (70%). In a recent study researchers reported that the T16519C variation worsen the outcome of pancreatic cancer patients, possibly because it is involved in altering cellular metabolism. Because we found this mutation frequently in our healthy controls (43%) and could not find any differentiation among our patients with respect to the alleles at this mutation, we conclude that the functional significance of this mutation needs further investigation. We also analyzed somatic mutations in mitochondrial genes encoding subunits of the respiratory complex I. Seven somatic mutations in the MT-ND1 gene were found. Six of these mutations were synonymous mutations. The T4216C mutation that was detected in 26% of the CRC tested samples resulted in the substitution of tyrosine with the amino acid histidine at amino acid position 304. The T4216C mutation was recently reported in LHON patients (Povalko et al., 2005). The patients in our study who carried the T4216C mutation had no known vision problems. It is difficult to speculate about the role of this mutation in CRC. LHON mutations were shown to affect complex I in mitochondria and other investigators found other mutations in different parts of this gene. To show pathogenicity of this mutation or find its role in cancer, more investigations particularly in mtDNA of LHON patients are needed. Because cancer is a multifactorial disease and a causative mutation which leads to blindness and cancer has not been reported, we conclude that this mutation may be a secondary effect or rare polymorphism.
Author: Herve Seligmann Publisher: BoD – Books on Demand ISBN: 1789842654 Category : Medical Languages : en Pages : 226
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.
Author: Lawrence H. Lash Publisher: Elsevier ISBN: 1483218619 Category : Science Languages : en Pages : 527
Book Description
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.
Author: Keshav K. Singh
Author: Keshav K. Singh
Author: Keshav K Singh
Author: Hongzhi Sun
Author: Giuseppe Gasparre
Author: Stephen Bondy
Author: Richard H. Haas
Author: Jaime M. Ross
Author: Mansoureh Akouchekian
Author: Herve Seligmann
Author: Lawrence H. Lash