Ghelli A, Degli Esposti M, Carelli V, Lenaz G
Department of Biochemistry G. Moruzzi, University of Bologna, Italy.
Mol Aspects Med. 1997;18 Suppl:S263-7. doi: 10.1016/s0098-2997(97)00028-9.
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.
在患有与Leber遗传性视神经病变（LHON）相关的11778/ND4或3460/ND1线粒体DNA点突变的患者及健康携带者的血小板中，对亚线粒体颗粒中的复合体I功能进行了研究。11778/ND4和3460/ND1突变均诱导鱼藤酮抗性，并且相对于对照组，11778/ND4显示对泛醇-2的米氏常数（K(m)）增加。得出的结论是，即使致病机制不同，这两种突变均影响复合体I的醌结合位点。
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