OXPHOS and mtDNA alterations in a family with spastic paraparesis.
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.


CONCLUSIONS
We suggest the use of a muscle biopsy when examining HSP patients. HSP can represent a disorder of nuclear-mitochondrial intercommunication.
Santorelli
F M
FM
Molecular Medicine & Dept of Neurosciences, IRCCS-Children's Hospital Bambino Gesù, Rome, Italy.
Piemonte
F
F
Carrozzo
R
R
Tessa
A
A
Patrono
C
C
Tozzi
G
G
Bertini
E
E
D000328:Adult; D001706:Biopsy; D015139:Blotting, Southern; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism*; D010085:Oxidative Phosphorylation; D020336:Paraparesis, Spastic / Q000235:genetics* / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D017384:Sequence Deletion / Q000235:genetics*
D004272:DNA, Mitochondrial