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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.
This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.
Topic Editor Valerio Carelli received financial support from Stealth BioTherapeutics. The other Topic Editors declare no competing interests with regard to the Research Topic subject.
Materials science and engineering are strongly developing tools with increasing impact in the biotechnological and biomedical areas. Interestingly, research in molecular and cellular biology is often at the core of the design and development of materials-based approaches, providing biological rationale. Focused on research relying on biology–materials interaction, IJMS launched a Special Issue named “Cells and Materials for Disease Modeling and Regenerative Medicine”. The aim of the Special Issue was to generate a compilation of in vitro and in vivo strategies based on cell–material interactions. This book compiles the papers published in that Special Issue and includes a selection of six original scientific experimental articles and six comprehensive reviews. We are convinced that this collection of articles shows representative examples of the state of the art in the field, unveiling the relevance of materials research in generating new regenerative medicine and disease modeling approaches.
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 t...
This book will be focused on mitochondria as very promising targets for anti-cancer drugs, yet to be fully exploited. It will contain chapters focused on aspects of basic research as well as on clinical relevance, which will be written by specialists in the field. That the role of mitochondria in human pathologies goes beyond the neoplastic diseases will be documented by a chapter of the role of mitochondria in Friedreich's ataxia.
Neurodegenerative diseases result in progressive degeneration and / or death of nerve cells which leads to problems with movement and mental functioning. Examples include Parkinson's, Alzheimer's and Huntington's disease. Much research is taking place to try to identify ways to prevent or lessen the impact of these diseases. This volume reviews the latest research and developments in the molecular biology of neurodegenerative diseases. Contributions from leading authorities Informs and updates on all the latest developments in the field
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
The book contains chapters written by leaders in the research on the structure and function of respiratory complex I. It will provide a concise and authoritative summary of the current knowledge on complex I of respiratory chains. This enzyme is central to energy metabolism and is implicated in many human neurodegenerative diseases, as well as in aging. Until recently it was poorly understood on a structural level, and this book will provide a timely reference resource. Such a book was not published previously. The last time a minireview series on complex I were published was in 2001, and since then complex I field changed quite dramatically.