Abstract
The complex I function in sub-mitochondrial particles was studied in platelets from patients and healthy carriers with 11778/ND4 or 3460/ND1 mtDNA point mutations associated with LHON. Both 11778/ND4 and 3460/ND1 mutations induced rotenone resistance and 11778/ND4 showed an increased K(m) for ubiquinol-2 with respect to the control group. It was concluded that even with different pathogenic mechanisms both mutations affect the quinone binding site of complex I.
Original language | English |
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Journal | Molecular Aspects of Medicine |
Volume | 18 |
Issue number | SUPPL. |
DOIs | |
Publication status | Published - 1997 |
Keywords
- Complex I
- LHON
- mtDNA mutations
- Platelets
- Rotenone
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Molecular Medicine