Mitochondrial Disorders Caused by Nuclear Genes

Buch | Softcover

372 Seiten

2014 | 2013 ed.
Springer-Verlag New York Inc.
978-1-4899-9241-3 (ISBN)

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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.

Part 1: Overview.- The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders.- Biochemical and Molecular Methods for the Study of Mitochondrial Disorders.- 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.- Alpers-Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease.- Deoxyguanosine Kinase.- MPV17-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome.- Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1).- Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability.- Depletion of mtDNA with MMA: SUCLA2 and SUCLG1.- RRM2B-Related Mitochondrial Disease.- Part 3: Complex Subunits and Assembly Genes.- Complex Subunits and Assembly Genes: Complex I.- Mitochondrial Respiratory Chain Complex II.- Mitochondrial Complex III Deficiency of Nuclear Origin: Molecular Basis, Pathophysiological Mechanisms and Mouse Models.- Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases.- Part 4: Mitochondrial Protein Translation Related Diseases.- Mitochondrial Aminoacyl-tRNA Synthetases.- Mitochondrial Protein Translation Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors.- Disorders of Mitochondrial RNA Modification.- Part 5: Others.- Pyruvate Dehydrogenase Complex Deficiencies.- Nuclear Genes Causing Mitochondrial Cardiomyopathy.- Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins.- Index.

Erscheint lt. Verlag	15.10.2014
Zusatzinfo	XII, 372 p.
Verlagsort	New York
Sprache	englisch
Maße	155 x 235 mm
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete
	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
	Studium ► 2. Studienabschnitt (Klinik) ► Pathologie
	Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
ISBN-10	1-4899-9241-3 / 1489992413
ISBN-13	978-1-4899-9241-3 / 9781489992413
Zustand	Neuware