Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease
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Author | : Iain P. Hargreaves |
Publisher | : MDPI |
Total Pages | : 239 |
Release | : 2018-10-16 |
Genre | : Science |
ISBN | : 3038972401 |
This book is a printed edition of the Special Issue "Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease" that was published in JCM
Author | : Lawrence H. Lash |
Publisher | : Elsevier |
Total Pages | : 527 |
Release | : 2013-10-22 |
Genre | : Science |
ISBN | : 1483218619 |
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 | : Patrick F. Chinnery |
Publisher | : Cambridge University Press |
Total Pages | : 229 |
Release | : 2018-05-17 |
Genre | : Medical |
ISBN | : 0521132983 |
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Author | : Saskia Koene |
Publisher | : |
Total Pages | : 135 |
Release | : 2011 |
Genre | : |
ISBN | : 9789081773706 |
Author | : National Academies of Sciences, Engineering, and Medicine |
Publisher | : National Academies Press |
Total Pages | : 201 |
Release | : 2016-04-17 |
Genre | : Medical |
ISBN | : 0309388708 |
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.
Author | : Nenad Blau |
Publisher | : Springer Science & Business Media |
Total Pages | : 860 |
Release | : 2008-05-31 |
Genre | : Medical |
ISBN | : 3540766987 |
This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Author | : Institute of Medicine |
Publisher | : National Academies Press |
Total Pages | : 353 |
Release | : 1994-01-01 |
Genre | : Medical |
ISBN | : 0309047986 |
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Author | : Anthony Henry Vernon Schapira |
Publisher | : Butterworth-Heinemann |
Total Pages | : 272 |
Release | : 1994 |
Genre | : Medical |
ISBN | : |
Mitochondrial Disorders in Neurology provides an overview of mitochondrial diseases. This book discusses the effects of mitochondrial dysfunction based on the relevant biochemistry and molecular genetics. The abnormal muscle and mitochondrial morphology in a variety of clinical presentations from isolated ophthalmoplegia to severe encephalopathy are also elaborated. This text likewise deliberates Leber's hereditary optic neuropathy, neurodegenerative disorders, and respiratory chain defects. Other topics covered include mitochondrial DNA and the genetics of mitochondrial disease; cytochrome ox ...
Author | : E. Gilbert-Barness |
Publisher | : IOS Press |
Total Pages | : 960 |
Release | : 2017-01-06 |
Genre | : Medical |
ISBN | : 1614997187 |
The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
Author | : Jaime M. Ross |
Publisher | : MDPI |
Total Pages | : 543 |
Release | : 2018-09-28 |
Genre | : Science |
ISBN | : 3038422517 |
This book is a printed edition of the Special Issue "Mitochondrial Dysfunction in Ageing and Diseases" that was published in IJMS