Disorders associated with depletion of mitochondrial DNA. NLM AIDSLINE Important note: Information in this article was accurate in 1994. The state of the art may have changed since the publication date.

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Disorders associated with depletion of mitochondrial DNA.

Brain Pathol. 1992 Apr;2(2):141-7. Unique Identifier : AIDSLINE MED/94093817
Ricci E; Moraes CT; Servidei S; Tonali P; Bonilla E; DiMauro S; UILDM of Rome Research Center for Neuromuscular Diseases,; Catholic University, Italy.

Abstract: 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.
Keywords: Acquired Immunodeficiency Syndrome/COMPLICATIONS/DRUG THERAPY Child, Preschool Cytochrome-c Oxidase/GENETICS DNA, Mitochondrial/*GENETICS Female Human Infant Male Mitochondrial Encephalomyopathies/ENZYMOLOGY/*GENETICS/PATHOLOGY Pedigree Support, Non-U.S. Gov't Support, U.S. Gov't, P.H.S. Zidovudine/ADVERSE EFFECTS JOURNAL ARTICLE REVIEW REVIEW, TUTORIALKWDacquiredimmunodeficiencysyndrome/complications/drugtherapychild,preschoolcytochrome-coxidase/geneticsdna,mitochondrial/KWDgeneticsfemalehumaninfantmalemitochondrialencephalomyopathies/enzymology/KWDgenetics/pathologypedigreesupport,non-uKWDsKWDgov'tsupport,uKWDsKWDgov't,pKWDhKWDsKWDzidovudine/adverseeffectsjournalarticlereviewreview,tutorial
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