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A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.

Abstract
This study aimed to understand the pathogenesis of a new mtDNA-related etiology of Leigh syndrome. We identified the T9176G mutation as the molecular basis of Leigh syndrome in a child and looked for alterations in cellular ATP production. We then modeled the new mtDNA mutation in E. coli and analyzed ATP synthesis, hydrolysis, and the ability of the mutated enzyme to pump protons. Our results suggest that the T9176G change results in a novel, fully assembled enzyme which inhibits the holoenzyme probably by blocking the proton pathway.
AuthorsR Carrozzo, J Murray, O Capuano, A Tessa, G Chichierchia, M R Neglia, R A Capaldi, F M Santorelli
JournalNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (Neurol Sci) Vol. 21 Issue 5 Suppl Pg. S983-4 ( 2000) ISSN: 1590-1874 [Print] Italy
PMID11382202 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA, Mitochondrial
  • Adenosine Triphosphate
  • Adenosine Triphosphatases
Topics
  • Adenosine Triphosphatases (genetics, metabolism)
  • Adenosine Triphosphate (biosynthesis, genetics)
  • Brain (enzymology, pathology, physiopathology)
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • DNA, Mitochondrial (genetics)
  • Electron Transport (genetics)
  • Escherichia coli (genetics)
  • Female
  • Genes (genetics)
  • Humans
  • Leigh Disease (enzymology, genetics, physiopathology)
  • Models, Genetic
  • Point Mutation (genetics)
  • Protein Structure, Tertiary (genetics)

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