OXPHOS and mtDNA alterations in a family with spastic paraparesis

F. M. Santorelli, F. Piemonte, R. Carrozzo, A. Tessa, C. Patrono, G. Tozzi, E. Bertini

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Objective - To study muscle biopsies in hereditary spastic paraparesis (HSP). Methods - We analyzed oxidative phosphorylation activities and mtDNA in 3 individuals from an HSP family. Results - We found histochemical evidence for mitochondrial proliferation and cytochrome c oxidase negative fibers. Biochemically, there was an important reduction of the activities of complexes I and IV in 3 patients. In addition, multiple mtDNA deletions (ranging 4.0-7.0 kb) were found in 2 cases by PCR but not by Southern blot. Conclusion - We suggest the use of a muscle biopsy when examining HSP patients. HSP can represent a disorder of nuclear mitochondrial intercommunication.

Original languageEnglish
Pages (from-to)255-258
Number of pages4
JournalActa Neurologica Scandinavica
Volume101
Issue number4
Publication statusPublished - 2000

Fingerprint

Spastic Paraparesis
Mitochondrial DNA
Biopsy
Mitochondrial Diseases
Muscles
Oxidative Phosphorylation
Electron Transport Complex IV
Southern Blotting
Polymerase Chain Reaction

Keywords

  • MtDNA
  • Muscle biopsy
  • Oxidative phosphorylation
  • Spastic paraparesis

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

OXPHOS and mtDNA alterations in a family with spastic paraparesis. / Santorelli, F. M.; Piemonte, F.; Carrozzo, R.; Tessa, A.; Patrono, C.; Tozzi, G.; Bertini, E.

In: Acta Neurologica Scandinavica, Vol. 101, No. 4, 2000, p. 255-258.

Research output: Contribution to journalArticle

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AU - Tessa, A.

AU - Patrono, C.

AU - Tozzi, G.

AU - Bertini, E.

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