DOI: 10.1002/ana.20729. Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

10.1002/ana.20729

Crossref journal-article

Wiley

Annals of Neurology (311)

Abstract

AbstractObjectiveMethods: We describe biochemically and clinically relevant aspects of mitochondrial ATP synthase, the enzyme that supplies most ATP for the cells energy demand.ResultsAnalyzing human Rho zero cells we could identify three subcomplexes of ATP synthase: F1 catalytic domain, F1 domain with bound natural IF1 inhibitor protein, and F1‐c subcomplex, an assembly of F1 domain and a ring of FO‐subunits c. Large amounts of F1 subcomplexes accumulated also in mitochondria of patients with specific mitochondrial disorders. By quantifying the F1 subcomplexes and other oxidative phosphorylation complexes in parallel, we were able to discriminate three classes of defects in mitochondrial biosynthesis, namely, mitochondrial DNA depletion, mitochondrial transfer RNA (tRNA) mutations, and mutations in the mitochondrial ATP6 gene.InterpretationThe relatively simple electrophoretic assay used here is a straightforward approach to differentiate between various types of genetic alterations affecting the biosynthesis of oxidative phosphorylation complexes and will be useful to guide molecular genetic diagnostics in the field of mitochondrial neuromuscular disorders. Ann Neurol 2006

Bibliography

Carrozzo, R., Wittig, I., Santorelli, F. M., Bertini, E., Hofmann, S., Brandt, U., & SchÃ¤gger, H. (2005). Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders. Annals of Neurology, 59(2), 265â275. Portico.

Authors 7

Rosalba Carrozzo (first)
Ilka Wittig (additional)
Filippo M. Santorelli (additional)
Enrico Bertini (additional)
Sabine Hofmann (additional)
Ulrich Brandt (additional)
Hermann Schägger (additional)

References 47 Referenced 70

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Dates

Type	When
Created	19 years, 8 months ago (Dec. 19, 2005, 5:16 p.m.)
Deposited	1 year, 11 months ago (Sept. 7, 2023, 6:36 a.m.)
Indexed	1 month, 1 week ago (July 20, 2025, 12:27 a.m.)
Issued	19 years, 8 months ago (Dec. 19, 2005)
Published	19 years, 8 months ago (Dec. 19, 2005)
Published Online	19 years, 8 months ago (Dec. 19, 2005)
Published Print	19 years, 6 months ago (Feb. 1, 2006)

Funders 5

Deutsche Forschungsgemeinschaft 10.13039/501100001659
Region: Europe
gov (National government)
Labels3
1. German Research Association
2. German Research Foundation
3. DFG
Sonderforschungsbereich 472, Project P11
Sonderforschungsbereich 628, Project P14
Italian Ministry of Health
Stiftung Pathobiochemie und Molekulare Diagnostik

BibTeX

@article{Carrozzo_2005, title={Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders}, volume={59}, ISSN={1531-8249}, url={http://dx.doi.org/10.1002/ana.20729}, DOI={10.1002/ana.20729}, number={2}, journal={Annals of Neurology}, publisher={Wiley}, author={Carrozzo, Rosalba and Wittig, Ilka and Santorelli, Filippo M. and Bertini, Enrico and Hofmann, Sabine and Brandt, Ulrich and Schägger, Hermann}, year={2005}, month=dec, pages={265–275} }

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