Espressione dei deficit della catena respiratoria nelle colture cellulari umane.

Translated title of the contribution: Expression of a defect in the respiratory chain in cultured human cells

G. Meola, G. Rotondo, M. Velicogna, R. Toppi, V. Sansone, N. Bresolin, G. Comi, A. Bordoni, P. Amati, C. Ausenda

Research output: Contribution to journalArticlepeer-review


Large scale deletions of mitochondrial DNA (mtDNA) or altered inter-genomic regulation in skeletal muscle have been demonstrated in patients with mitochondrial encephalomyopathies due to Cytochrome C oxidase (COx) deficiency. We have analyzed by Southern blotting and Polymerase Chain Reaction (PCR) the mtDNA in primary muscle cultures (myoblast-myotube stages and at clonal densities) and in fibrogenic subclones obtained from 9 patients with partial COx deficiency who had in their muscle biopsy a subpopulation of mtDNA showing deletions of variable size (between 2.1 and 6.5 Kb). Only in the cultures from one patient, southern analysis revealed in myoblasts and myotubes a mtDNA almost identical to that found in the original muscle biopsy and persistence of deletion in muscle cells grown at clonal densities. The deletion was detectable in fibrogenic lineage only by PCR amplification. The deleted mtDNA molecules were detectable in myogenic or fibrogenic cultures from other patients only by PCR amplification. The different amounts of deleted mtDNA in the various tissues could be due either to an unequal distribution of the altered mtDNA during embryogenesis with amplification of deleted molecules in myogenic lineage or could result from negative selection against the altered mtDNA in rapidly proliferating cells, such as fibroblasts.

Translated title of the contributionExpression of a defect in the respiratory chain in cultured human cells
Original languageItalian
Pages (from-to)122-134
Number of pages13
JournalRivista di Neurologia
Issue number4
Publication statusPublished - Jul 1991

ASJC Scopus subject areas

  • Clinical Neurology


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