Depletion of mitochondrial DNA in the skeletal muscle of two cirrhotic patients with severe asthenia

Vito Pesce, Antonella Cormio, Lucia C. Marangi, Francesco W. Guglielmi, Angela M S Lezza, Antonio Francavilla, Palmiro Cantatore, Maria Nicola Gadaleta

Research output: Contribution to journalArticle

Abstract

Qualitative and quantitative alterations of mitochondrial DNA (mtDNA) in the skeletal muscle from two patients with cirrhosis and severe asthenia have been studied. The 4977 bp (mtDNA4977) and the 7436 bp (mtDNA7436) mtDNA deletions, as well as other mtDNA deletions, revealed by long extension PCR (LX-PCR), were found in the two patients, whereas the 10,422 bp (mtDNA10,422) mtDNA deletion was absent. Altogether, the qualitative alterations of mtDNA in cirrhotic patients with severe asthenia were comparable to those of age-matched healthy individuals. The mtDNA content, on the contrary, was substantially decreased in both patients with respect to control. Such mtDNA depletion might be explained by an increased, disease-related, oxidative damage to mtDNA, which probably affects the replication of the mitochondrial genome as already suggested in other oxidative stress-associated diseases.

Original languageEnglish
Pages (from-to)143-148
Number of pages6
JournalGene
Volume286
Issue number1
DOIs
Publication statusPublished - Mar 6 2002

Keywords

  • Chronic liver disease
  • Mitochondrial DNA content
  • Mitochondrial DNA deletions

ASJC Scopus subject areas

  • Genetics

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    Pesce, V., Cormio, A., Marangi, L. C., Guglielmi, F. W., Lezza, A. M. S., Francavilla, A., Cantatore, P., & Gadaleta, M. N. (2002). Depletion of mitochondrial DNA in the skeletal muscle of two cirrhotic patients with severe asthenia. Gene, 286(1), 143-148. https://doi.org/10.1016/S0378-1119(01)00815-0