BookLee-Jun C. Wong, editor.
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.
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.