Disorders associated with depletion of mitochondrial DNA.
Quantitative defects of mtDNA have been recently described in patients with fatal mitochondrial disease of early infancy or mitochondrial myopathy of childhood. There was variable tissue expression and depletion of up to 98% of mtDNA in affected tissues. Pedigree analysis was compatible with mendelian inheritance, suggesting faulty communication between nuclear and mitochondrial genomes, but the primary molecular lesion is unknown. In muscle, morphological studies allowed to correlate mtDNA depletion, absence of mtDNA-encoded peptides, mitochondrial proliferation, and loss of cytochrome c oxidase (COX) activity in individual fibers.
Ricci
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E
UILDM of Rome Research Center for Neuromuscular Diseases, Catholic University, Italy.
Moraes
C T
CT
Servidei
S
S
Tonali
P
P
Bonilla
E
E
DiMauro
S
S
D000163:Acquired Immunodeficiency Syndrome / Q000150:complications / Q000188:drug therapy; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D015215:Zidovudine / Q000009:adverse effects
D004272:DNA, Mitochondrial; D015215:Zidovudine; D003576:Electron Transport Complex IV