Mitochondrial Disorders Caused by Nuclear Genes

• Corporate Author: SpringerLink (Online service)
• Other Authors: Wong, Lee-Jun C. (Editor)
• Format: Electronic
• Language: English
• Published: New York, NY : Springer New York : Imprint: Springer, 2013.
• Subjects: Medicine.; Human genetics.; Biomedicine.; Human Genetics.; Molecular Medicine.; Biomedicine general.
• Online Access: https://ezaccess.library.uitm.edu.my/login?url=http://dx.doi.org/10.1007/978-1-4614-3722-2

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...

Table of Contents:

• 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.