Related Experiment Videos
OXPHOS and mtDNA alterations in a family with spastic paraparesis
F M Santorelli1, F Piemonte, R Carrozzo
1Molecular Medicine & Dept of Neurosciences, IRCCS-Children's Hospital Bambino Gesù, Rome, Italy.
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.