Open AccessDisorders Associated with Depletion of Mitochondrial DNA
Author(s) -
Ricci Enzo,
Moraes Carlos T.,
Servidei Serenella,
Tonali Pietro,
Bonilla Eduardo,
DiMauro Salvatore
Publication year - 1992
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/j.1750-3639.1992.tb00682.x
Subject(s) - mitochondrial dna , biology , mitochondrial myopathy , mitochondrion , cytochrome c oxidase , mitochondrial encephalomyopathies , mitochondrial disease , genetics , non mendelian inheritance , nuclear dna , mendelian inheritance , microbiology and biotechnology , gene
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.