Journal of Inherited Metabolic Disease

, Volume 21, Issue 8, pp 829–836 | Cite as

Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations

  • M. E. Vázquez-Memije
  • S. Shanske
  • F. M. Santorelli
  • P. Kranz-Eble
  • D. C. DeVivo
  • S. DiMauro


We performed comparative biochemical studies in cultured fibroblast mitochondria from patients with the T8993G or the T8993C point mutations in the ATPase 6 gene of mitochondrial DNA. We found that ATP production was much more severely decreased in cells from patients with the T8993G mutation than in those from patients with the T8993C mutation. Kinetic studies suggest that both mutations affect only the F0 sector of the mitochondrial ATPase complex. We conclude that these two mutations, which result in the substitution of different amino acids at the same site of the ATPase, result in an enzyme with different biochemical characteristics.


Public Health Internal Medicine Point Mutation Kinetic Study Biochemical Characteristic 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Kluwer Academic Publishers 1998

Authors and Affiliations

  • M. E. Vázquez-Memije
  • S. Shanske
  • F. M. Santorelli
  • P. Kranz-Eble
  • D. C. DeVivo
  • S. DiMauro

There are no affiliations available

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