Disorders of mitochondria and related metabolism.
Mitochondrial disorders are caused by mutations in either nuclear or mitochondrial genes involved in the synthesis of respiratory chain subunits or in their post-translational control. Molecular lesions of mitochondrial DNA are a frequent cause of defective oxidative phosphorylation. Although only one mutation of nuclear-encoded oxidative phosphorylation subunits has so far been reported in humans, numerous biochemically defined disorders are attributed to nuclear gene defects. The pathogenesis of these disorders has been investigated through a combination of different expertises, including keen clinical observation, classical biochemistry and muscle morphology, molecular and cellular biology, linkage analysis and population genetic studies.
Zeviani
M
M
Unit of Molecular Medicine, Children's Hospital Bambino Gesù, Rome, Italy. zeviani@mbox.vol.it
Fernandez-Silva
P
P
Tiranti
V
V
D000328:Adult; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D004579:Electron Transport / Q000235:genetics / Q000502:physiology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008931:Mitochondria, Muscle / Q000235:genetics / Q000502:physiology; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D017354:Point Mutation; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
D004272:DNA, Mitochondrial