Mitochondrial Disorders Caused by Nuclear Genes

✍ Scribed by Salvatore DiMauro M.D., Valentina Emmanuele M.D. (auth.), Lee-Jun C. Wong (eds.)

Publisher: Springer-Verlag New York
Year: 2013
Tongue: English
Leaves: 364
Edition: 1
Category: Library

No coin nor oath required. For personal study only.

✦ Synopsis

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.

✦ Table of Contents

Front Matter....Pages 1-1
Front Matter....Pages 1-1
The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders....Pages 3-25
Biochemical and Molecular Methods for the Study of Mitochondrial Disorders....Pages 27-45
Front Matter....Pages 47-47
Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions....Pages 49-72
Alpers–Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease....Pages 73-89
Deoxyguanosine Kinase....Pages 91-102
MPV17 -Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome....Pages 103-112
Mitochondrial DNA Depletion due to Mutations in the TK2 Gene....Pages 113-121
Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1)....Pages 123-140
Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability....Pages 141-161
Depletion of mtDNA with MMA: SUCLA2 and SUCLG1 ....Pages 163-169
RRM2B -Related Mitochondrial Disease....Pages 171-182
Front Matter....Pages 183-183
Complex Subunits and Assembly Genes: Complex I....Pages 185-202
Mitochondrial Respiratory Chain Complex II....Pages 203-218
Mitochondrial Complex III Deficiency of Nuclear Origin:....Pages 219-238
Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases....Pages 239-259
Front Matter....Pages 261-261
Mitochondrial Aminoacyl-tRNA Synthetases....Pages 263-276
Mitochondrial Protein Translation-Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors....Pages 277-285
Disorders of Mitochondrial RNA Modification....Pages 287-297
Front Matter....Pages 299-299
Pyruvate Dehydrogenase Complex Deficiencies....Pages 301-317
Nuclear Genes Causing Mitochondrial Cardiomyopathy....Pages 319-335
Front Matter....Pages 299-299
Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins....Pages 337-366
Back Matter....Pages 352-352

✦ Subjects

Human Genetics; Molecular Medicine; Biomedicine general

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