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 language | English |
|---|---|
| Pages (from-to) | 255-258 |
| Number of pages | 4 |
| Journal | Acta Neurologica Scandinavica |
| Volume | 101 |
| Issue number | 4 |
| Publication status | Published - 2000 |
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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 journal › Article
}
TY - JOUR
T1 - OXPHOS and mtDNA alterations in a family with spastic paraparesis
AU - Santorelli, F. M.
AU - Piemonte, F.
AU - Carrozzo, R.
AU - Tessa, A.
AU - Patrono, C.
AU - Tozzi, G.
AU - Bertini, E.
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
KW - MtDNA
KW - Muscle biopsy
KW - Oxidative phosphorylation
KW - Spastic paraparesis
UR - http://www.scopus.com/inward/record.url?scp=0034060130&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034060130&partnerID=8YFLogxK
M3 - Article
VL - 101
SP - 255
EP - 258
JO - Acta Neurologica Scandinavica
JF - Acta Neurologica Scandinavica
SN - 0001-6314
IS - 4
ER -