Biopolymers and cell. 1996; 12 (4): 84 - 87

The reduction of oxidative phosphorylalion's efficiency in donors of extrachoromosome 21

S. B. Arbuzova, V. D. Solovyeva, O. O. Phedotova

The indices of energy metabolism in 70 mothers-donors ofextrachromosome 21 have been studied on the basis of our suggestion about the role ofmt DNA mutations in pathogenesis oftrisomy 21. The changes of ratio between serum and erythrocyte's phosphorus, the increase oflactat dehydrogenase and creatinkinase activity in serum, the decrease ofATP level are the evidence of the reduction of oxidative phosp/iorylation's efficiency and show the mitochondrial «stress» in donors ofextrachromosome 21. The obtained results and our earlier presented data about the increased level of free radicals, the oppression ofantioxidant system as well as mt DNA's point mutation detected in examined donor of extrachromosome 21 indicate the impor¬tance of mitochondria! genome inpathogenesis of trisomy 21,