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

R. Carrozzo, J. Murray, O. Capuano, A. Tessa, G. Chichierchia, M. R. Neglia, R. A. Capaldi, F. M. Santorelli

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish
JournalNeurological Sciences
Volume21
Issue number9
Publication statusPublished - 2000

Fingerprint

Leigh Disease
Mitochondrial DNA
Adenosine Triphosphate
Escherichia coli
Proton Pumps
Holoenzymes
Mutation
Enzymes
Genes
Protons
Hydrolysis

Keywords

  • ATP synthesis
  • Leigh syndrome
  • mtDNA

ASJC Scopus subject areas

  • Dermatology
  • Clinical Neurology
  • Psychiatry and Mental health
  • Neuroscience(all)

Cite this

Carrozzo, R., Murray, J., Capuano, O., Tessa, A., Chichierchia, G., Neglia, M. R., ... Santorelli, F. M. (2000). A novel mtDNA mutation in the ATPase6 gene studied by E. Coli modeling. Neurological Sciences, 21(9).

A novel mtDNA mutation in the ATPase6 gene studied by E. Coli modeling. / Carrozzo, R.; Murray, J.; Capuano, O.; Tessa, A.; Chichierchia, G.; Neglia, M. R.; Capaldi, R. A.; Santorelli, F. M.

In: Neurological Sciences, Vol. 21, No. 9, 2000.

Research output: Contribution to journalArticle

Carrozzo, R, Murray, J, Capuano, O, Tessa, A, Chichierchia, G, Neglia, MR, Capaldi, RA & Santorelli, FM 2000, 'A novel mtDNA mutation in the ATPase6 gene studied by E. Coli modeling', Neurological Sciences, vol. 21, no. 9.
Carrozzo, R. ; Murray, J. ; Capuano, O. ; Tessa, A. ; Chichierchia, G. ; Neglia, M. R. ; Capaldi, R. A. ; Santorelli, F. M. / A novel mtDNA mutation in the ATPase6 gene studied by E. Coli modeling. In: Neurological Sciences. 2000 ; Vol. 21, No. 9.
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