Cytochrome c oxidase deficiency: Patients and animal models
Open accessAbstract
Cytochrome c oxidase (COX) deficiencies are one of the most common defects of the respiratory chain found in mitochondrial diseases. COX is a multimeric inner mitochondrial membrane enzyme formed by subunits encoded by both the nuclear and the mitochondrial genome. COX biosynthesis requires numerous assembly factors that do not form part of the final complex but participate in prosthetic group synthesis and metal delivery in addition to membrane insertion and maturation of COX subunits. Human diseases associated with COX deficiency including encephalomyopathies, Leigh syndrome, hypertrophic cardiomyopathies, and fatal lactic acidosis are caused by mutations in COX subunits or assembly factors. In the last decade, numerous animal models have been created to understand the pathophysiology of COX deficiencies and the function of assembly factors. These animal models, ranging from invertebrates to mammals, in most cases mimic the pathological features of the human diseases.
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COX1 depletion results in defective assembly, and delivery of nuclear-encoded subunits reduces COX1 levels and also disrupts assembly.
“COX1 depletion results in defective assembly, and delivery of nuclear-encoded subunits reduces COX1 levels and also disrupts assembly [82–87].”
From Neuronal Apolipoprotein E4 Expression Results in Proteome-Wide Alterations and Compromises Bioenergetic Capacity by Disrupting Mitochondrial Function (2019) · cites this paper as [83]
Section 3.3.1 describes COX1 as the first assembly intermediate, supporting the link between COX1 depletion and defective assembly. Section 3.3 says assembly factors help transport nuclear-encoded subunits, but neither passage says that their delivery reduces COX1 levels; section 5.2 instead links impaired COX1 synthesis to a TACO1 mutation. Page numbers are unavailable in our copy. (LLM, conf=0.83)
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Cites
Mitochondrial Dysfunction and Oxidative Stress in Neurodegenerative Diseases
Lin, M. T., & Beal, M. F. (2006) · Nature · doi:10.1038/nature05292 · Cited by 6,455 · see citing works
Coskun, P. E., Beal, M. F., & Wallace, D. C. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0403649101 · Cited by 556 · see citing works
Mitochondrial copper metabolism and delivery to cytochrome <i>c</i> oxidase
Horn, D., & Barrientos, A. (2008) · IUBMB Life · doi:10.1002/iub.50 · Cited by 283 · see citing works
Fukui, H., Diaz, F., Garcia, S., & Moraes, C. T. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0705738104 · Cited by 185 · see citing works
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Research works printed but not linked: 6
- D.R. Winge, A. Tzagoloff, Assembly of the Mitochondrial Respiratory Chain, Preface, Biochimica et Biophysica Acta (BBA) -Molecular Cell Research Assembly of the Mitochondrial Respiratory Chain, vol. 1793, 2009, p. 1.
- S. DiMauro, M. Hirano, E. Bonilla, C.T. Moraes, E.A. Schon, Cytochrome oxidase deficiency: progress and problems, Butterworth-Heinemann, Oxford, 1994.
- E. Bonilla, K. Tanji, S. DiMauro, E.A. Schon, Neurologic and neuropathologic fea- tures of mitochondrial encephalomyopathies, John Wiley & Sons, New York, 1997.
- V.K. Mootha, P. Lepage, K. Miller, J. Bunkenborg, M. Reich, M. Hjerrild, T. Delmonte, A. Villeneuve, R. Sladek, F. Xu, G.A. Mitchell, C. Morin, M. Mann, T.J. Hudson, B. Robinson, J.D. Rioux, E.S. Lander, Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics, Proc. Natl. Acad. Sci. USA 100 (2003) 605-610.
- S.A. Bayer, J. Altman, Neocortical Development, 1991, Raven Press, New York, 1991.
- M. Jacobson, Developmental neurobiology, Plenum Press, New York, 1991.
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Orr, A. L., Kim, C., Jimenez-Morales, D., Newton, B. W., Johnson, J. R., Krogan, N. J., Swaney, D. L., & Mahley, R. W. (2019) · Journal of Alzheimer's Disease · doi:10.3233/jad-181184 · Cited by 103 · see citing works
- Authors
- Diaz, F.
- Venue
- Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Publisher
- Elsevier BV
- Published
- 2010-01
- Volume
- 1802
- Issue
- 1
- Pages
- 100-110
- ISSN
- 0925-4439 (ISSN-L)
- OpenAlex
- W1986963451
- Cited by
- 127
- References
- 4
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 4 · 2023: 3 · 2022: 1 · 2021: 13 · 2020: 12 · 2019: 5 · 2018: 10 · 2017: 13 · 2016: 9 · 2015: 5 · 2014: 5 · 2013: 18 · 2012: 11
- FWCI
- 0.60
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- Trinity's Access to Research Output (TARA) (Trinity College Dublin) (submittedVersion)
- Funders
- Public Health Service (NS041777)
- The James and Esther King Research Program (08KN-01)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Coenzyme Q10 studies and effects
- Keywords
- cytochrome c oxidase deficiency, mitochondrial disease, respiratory chain deficiency, Leigh syndrome, hypertrophic cardiomyopathy, lactic acidosis, encephalomyopathy, animal models
- MeSH terms
- Animals, Humans, Leigh Disease, Mitochondria, Neurons, Oxidative Phosphorylation, Models, Animal, Mitochondrial Diseases, Cytochrome-c Oxidase Deficiency
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