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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)829-836
Number of pages8
JournalJournal of Inherited Metabolic Disease
Volume21
Issue number8
DOIs
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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