Altered properties of mitochondrial ATP-synthase in patients with a T → G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA
Josef Houstek,P. Klement,P. Klement,Hermanská J,Hana Houšťková,Hana Hansikova,Coby Van den Bogert,Jiri Zeman +7 more
TLDR
Results indicate that in this family the T-->G point mutation at position 8993 in the mitochondrial ATPase 6 gene is accompanied by structural instability and altered assembly of the enzyme complex, that are both most likely due to changes in the properties of subunit a of the membrane sector part of the ATP-synthase.About:
This article is published in Biochimica et Biophysica Acta.The article was published on 1995-06-09 and is currently open access. It has received 98 citations till now. The article focuses on the topics: Enzyme complex & Heteroplasmy.read more
Citations
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Journal ArticleDOI
Mitochondrial DNA mutations and pathogenesis.
TL;DR: An accumulating body of data has begun to reveal some patterns that may be relevant to pathogenesis, and almost twenty new pathogenic mtDNA point mutations have been described.
Journal ArticleDOI
Positive Contribution of Pathogenic Mutations in the Mitochondrial Genome to the Promotion of Cancer by Prevention from Apoptosis
Yujiro Shidara,Kumi Yamagata,Takashi Kanamori,Kazutoshi Nakano,Jennifer Q. Kwong,Giovanni Manfredi,Hideaki Oda,Shigeo Ohta +7 more
TL;DR: Findings showed that the advantage in tumor growth depended upon the MTATP6 function but was not due to secondary nuclear mutations caused by the mutant mitochondria, and the pathogenic mtDNA mutations seem to promote tumors by preventing apoptosis.
Journal ArticleDOI
Measurements of ATP in mammalian cells.
TL;DR: This article describes a method based on the luciferase-luciferin system used to measure mitochondrial ATP synthesis continuously in permeabilized mammalian cells and mitochondria isolated from animal tissues and an HPLC-based method for accurate measurement of ATP, ADP, and AMP in cultured cells and animal tissues.
Journal ArticleDOI
Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects.
TL;DR: Current knowledge of the biogenesis of OXPHOS complexes is reviewed based on investigation of the corresponding disorders to gain a complete understanding of the processes by which large multimeric complexes are formed.
Journal ArticleDOI
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants
Marina Mattiazzi,Chetan Vijayvergiya,Carl D. Gajewski,Darryl C. DeVivo,Giorgio Lenaz,Martin Wiedmann,Giovanni Manfredi +6 more
TL;DR: It is shown that antioxidants restore respiration and partially rescue ATP synthesis in cells harboring the T8993G mutation and that free radicals might play an important role in the pathogenesis of NARP/MILS and that this can be prevented by antioxidants.
References
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Protein Measurement with the Folin Phenol Reagent
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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
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TL;DR: A discontinuous sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) system for the separation of proteins in the range from 1 to 100 kDa is described, and the omission of glycine and urea prevents disturbances which might occur in the course of subsequent amino acid sequencing.
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Sequence and organization of the human mitochondrial genome
Stephen Anderson,Alan T. Bankier,Bart Barrell,M.H.L. de Bruijn,Alan Coulson,J. Drouin,J. Drouin,Ian C. Eperon,Donald P. Nierlich,Donald P. Nierlich,Bruce A. Roe,Bruce A. Roe,Frederick Sanger,P. H. Schreier,Andrew J.H. Smith,Rodger Staden,Ian G. Young,Ian G. Young +17 more
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Related Papers (5)
The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria.
Y. Tatuch,Brian H. Robinson +1 more