Title Mitochondrial disorders caused by nuclear genes / Lee-Jun C. Wong, editor

Published New York, NY : Springer, ©2013

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Description 1 online resource Contents Part 1. Overview -- The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders / Salvatore DiMauro and Valentina Emmanuele -- Biochemical and Molecular Methods for the Study of Mitochondrial Disorders / Lee-Jun C. Wong Part 2. Genes Involved in Mitochondrial DNA Biogenesis and Maintenance of Mitochondrial DNA Integrity -- Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions / Matthew J. Young and William C. Copeland -- Alpers-Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease / Russell P. Saneto and Bruce H. Cohen -- Deoxyguanosine Kinase / David Paul Dimmock -- MPV17-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome / Ayman W. El-Hattab -- Mitochondrial DNA Depletion due to Mutations in the TK2 Gene / Fernando Scaglia -- Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1) / Margherita Milone -- Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability / Patrick Yu-Wai-Man, Guy Lenaers and Patrick F. Chinnery -- Depletion of mtDNA with MMA: SUCLA2 and SUCLG1 / Nelson Hawkins Jr and Brett H. Graham -- RRM2B-Related Mitochondrial Disease / Gráinne S. Gorman, Robert D.S. Pitceathly, Douglass M. Turnbull and Robert W. Taylor Part 3. Complex Subunits and Assembly Genes -- Complex Subunits and Assembly Genes: Complex I / Ann Saada (Reisch) -- Mitochondrial Respiratory Chain Complex II / Jaya Ganesh, Lee-Jun C. Wong and Elizabeth B. Gorman -- Mitochondrial Complex III Deficiency of Nuclear Origin: / Molecular Basis, Pathophysiological Mechanisms, and Mouse Models / Alberto Blázquez, Lorena Marín-Buera, María Morán, Alberto García-Bartolomé and Joaquín Arenas, et al. -- Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases / Flavia Fontanesi and Antoni Barrientos Part 4. Mitochondrial Protein Translation Related Diseases -- Mitochondrial Aminoacyl-tRNA Synthetases / Henna Tyynismaa -- Mitochondrial Protein Translation-Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors / Brett H. Graham -- Disorders of Mitochondrial RNA Modification / William J. Craigen Part 5. Others -- Pyruvate Dehydrogenase Complex Deficiencies / Suzanne D. DeBrosse and Douglas S. Kerr -- Nuclear Genes Causing Mitochondrial Cardiomyopathy / Stephanie M. Ware and Jeffrey A. Towbin -- Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins / Lisbeth Tranebjærg Summary 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 disorders usually affects multiple organs. Mitochondrial Disorders Caused by Nuclear Genes discusses the biochemical, molecular, clinical, and genetic aspects of complex dual genome mitochondrial disorders. Chapters include genes involved in mitochondrial DNA biogenesis and maintenance of mitochondrial DNA integrity, complex subunits and assembly genes, and mitochondrial protein translation related diseases Analysis Medicine Human genetics Biomedicine Molecular Medicine Bibliography Includes bibliographical references and index Notes English In Springer eBooks Subject Mitochondrial pathology. Mitochondrial Diseases -- pathology Mitochondrial Diseases -- genetics Mitochondrial Diseases -- etiology HEALTH & FITNESS -- Diseases -- Genetic. MEDICAL -- Genetics. Mitochondrial pathology Form Electronic book Author Wong, Lee-Jun C LC no. 2012947805 ISBN 9781461437222 1461437229 1461437210 9781461437215

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