| 9266534 |
Ghelli A, Degli Esposti M, Carelli V, Lenaz G: Changes in mitochondrial complex I activity and coenzyme Q binding site in Leber's hereditary optic neuropathy (LHON). J Biol Chem. 2004 Dec 10;279(50):51783-92. Epub 2004 Oct 6.
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. |
3(0,0,0,3) |