Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases

التفاصيل البيبلوغرافية
العنوان: Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases
المؤلفون: Pertti Aula, Vesa Juvonen, Mårten Wikström, Eeva Nikoskelainen, Anna Majander, Marja-Liisa Savontaus, Tarja Lamminen
المصدر: FEBS letters. 412(2)
سنة النشر: 1997
مصطلحات موضوعية: Protein subunit, Mitochondrial disease, Mutant, Biophysics, Oxidative phosphorylation, Mitochondrion, Biology, medicine.disease_cause, Biochemistry, DNA, Mitochondrial, Oxidative Phosphorylation, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Adenosine Triphosphate, Optic Atrophies, Hereditary, Structural Biology, Genetics, medicine, Humans, Molecular Biology, 030304 developmental biology, 0303 health sciences, Mutation, ATP synthase, Proton translocation, Cell Biology, Syndrome, Leber's disease, medicine.disease, Molecular biology, Kinetics, Proton-Translocating ATPases, chemistry, F0, biology.protein, NARP syndrome, Leber hereditary optic neuropathy, Adenosine triphosphate, 030217 neurology & neurosurgery
الوصف: A lowered efficiency of oxidative phosphorylation was recently found in a Leber hereditary optic neuropathy (LHON) proband carrying a mutation in the mtDNA gene for subunit 6 of the membrane-bound F0 segment of the F1F0-ATP synthase [9]. This phenotype was transferred to cytoplasmic hybrid cells together with the mutation, proving its functional significance. Increasing the respiratory rate in the mitochondria from this mutant raised the ATP/2e− ratio back to normal values. A different mutation in the same mtDNA gene has been found in patients with the NARP syndrome [10]. Although the ATP/2e− ratio is also decreased in this mutant, in this case an increase in the respiratory rate could not compensate for it. Whilst both mutations affect subunit 6 of the proton-translocating F0 segment, the LHON mutation induces a proton leak whereas the NARP mutation blocks proton translocation. Hence, the latter will have much more destructive metabolic consequences in agreement with the large clinical differences between the two diseases.
تدمد: 0014-5793
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2f68e7ea0a696966adc0b0c19ffc720
https://pubmed.ncbi.nlm.nih.gov/9256250
Rights: OPEN
رقم الانضمام: edsair.doi.dedup.....e2f68e7ea0a696966adc0b0c19ffc720
قاعدة البيانات: OpenAIRE