Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

We have studied five children with mitochondrial myopathy manifesting within or soon after the first year of life. Muscle biopsies showed ragged-red fibers and decreased respiratory chain activity. All five patients had a severe decrease (2 to 34% of normal) in the amount of muscle mitochondrial DNA...

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Bibliographic Details
Published inNeurology Vol. 42; no. 1; p. 209
Main Authors Tritschler, H J, Andreetta, F, Moraes, C T, Bonilla, E, Arnaudo, E, Danon, M J, Glass, S, Zelaya, B M, Vamos, E, Telerman-Toppet, N
Format Journal Article
LanguageEnglish
Published United States 01.01.1992
Subjects
Blotting, Southern
Child, Preschool
DNA, Mitochondrial - analysis
Female
Histocytochemistry
Humans
Immunohistochemistry
Infant
Male
Mitochondria, Muscle - metabolism
Mitochondria, Muscle - ultrastructure
Muscles - metabolism
Muscular Diseases - genetics
Muscular Diseases - pathology
Muscular Diseases - physiopathology
Nucleic Acid Hybridization
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Summary:We have studied five children with mitochondrial myopathy manifesting within or soon after the first year of life. Muscle biopsies showed ragged-red fibers and decreased respiratory chain activity. All five patients had a severe decrease (2 to 34% of normal) in the amount of muscle mitochondrial DNA (mtDNA). The depletion of mtDNA correlated with absence of mtDNA-encoded translation products and with loss of cytochrome c oxidase enzyme activity in individual muscle fibers. This mitochondrial myopathy of childhood illustrates one phenotypic expression of a novel pathogenetic mechanism in mitochondrial diseases, the specific depletion of mtDNA in affected tissues.
ISSN:0028-3878
DOI:10.1212/WNL.42.1.209