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Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.
Open accessAbstract
Ceruloplasmin is an abundant alpha 2-serum glycoprotein that contains 95% of the copper found in the plasma of vertebrate species. We report here on the identification of a genetic defect in the ceruloplasmin gene in a patient previously noted to have a total absence of circulating serum ceruloplasmin in association with late-onset retinal and basal ganglia degeneration. In this patient T2 (transverse relaxation time)-weighted magnetic resonance imaging of the brain revealed basal ganglia densities consistent with iron deposition, and liver biopsy confirmed the presence of excess iron. Although Southern blot analysis of the patient's DNA was normal, PCR amplification of 18 of the 19 exons composing the human ceruloplasmin gene revealed a distinct size difference in exon 7. DNA sequence analysis of this exon revealed a 5-bp insertion at amino acid 410, resulting in a frame-shift mutation and a truncated open reading frame. The validity of this mutation was confirmed by analysis of DNA from the patient's daughter, which revealed heterozygosity for this same 5-bp insertion. The presence of this mutation in conjunction with the clinical and pathologic findings demonstrates an essential role for ceruloplasmin in human biology and identifies aceruloplasminemia as an autosomal recessive disorder of iron metabolism. These findings support previous studies that identified ceruloplasmin as a ferroxidase and are remarkably consistent with recent studies on the essential role of a homologous copper oxidase in iron metabolism in yeast. The clinical and laboratory findings suggest that additional patients with movement disorders and nonclassical Wilson disease should be examined for ceruloplasmin gene mutations.
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“As reported by Harris and colleagues, 184 iron deficiency results from lack of ferroxidase activity needed to mobilize iron from storage.”
From Forging a field: the golden age of iron biology. (2008) · cites this paper as [184]
In the citing paper
“In iron-replete cells, IRP1, which has ∼30% homology to mitochondrial aconitase based on amino acid alignments, loses its affinity for the IRE, and converts to a cytosolic aconitase (127, 263).”
From Intracellular iron transport and storage: from molecular mechanisms to health implications (2008) · cites this paper as [127]
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“The iron deposition seen in these mice is similar in some respects to that observed in patients with aceruloplasminemia, because these patients also display iron accumulation in the brainstem, cerebellum, and retina (Miyajima et al., 1987; Harris et al., 1995; Morita et al., 1995; Yoshida et al., 1995).”
ResultIdentification and Functional Expression of HAH1, a Novel Human Gene Involved in Copper Homeostasis
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“Ceruloplasmin has ferroxidase activity that is responsible for the oxidation of ferrous iron to its ferric form, which is necessary for efficient iron efflux from the cel”
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BackgroundMechanisms of Copper Incorporation into Human Ceruloplasmin
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“CP mutation results in a very rare genetic disease called aceruloplasminemia (120).”
Effect of copper deficiency on prenatal development and pregnancy outcome
Keen, C. L., Uriu‐Hare, J. Y., Hawk, S. N., Jankowski, M., Daston, G. P., Kwik-Uribe, C. L., & Rucker, R. B. (1998) · American Journal of Clinical Nutrition · doi:10.1093/ajcn/67.5.1003s · Cited by 166
Yuan, D., Dancis, A., & Klausner, R. D. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.41.25787 · Cited by 166
Klomp, L. W. J. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.12.1989 · Cited by 161
Aceruloplasminemia: An Inherited Neurodegenerative Disease with Impairment of Iron Homeostasis
XU, X., PIN, S., GATHINJI, M., FUCHS, R., & HARRIS, Z. L. (2004) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1306.024 · Cited by 160
Bacterial Mn2+Oxidizing Systems and Multicopper Oxidases: An Overview of Mechanisms and Functions
G. J. Brouwers, E. V. (2000) · Geomicrobiology Journal · doi:10.1080/014904500270459 · Cited by 159
“The human genetic disease aceruloplasminemia (absence of ceruloplasmin) results in defects in iron homeostasis, including iron accumulation in tissues (Harris et al. 1995).”
BackgroundMcCarthy, R. C., & Kosman, D. J. (2014) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-014-1771-4 · Cited by 163
“Aceruloplasminemia is an autosomal recessive disorder caused by loss-of-function mutations in the Cp gene [4, 172, 173].”
Iron Homeostasis: Recently Identified Proteins Provide Insight into Novel Control Mechanisms
Zhang, A.-S., & Enns, C. A. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.r800017200 · Cited by 154
Ceruloplasmin Is an Endogenous Inhibitor of Myeloperoxidase
Chapman, A., Mocatta, T. J., Shiva, S., Seidel, A., Chen, B., Khalilova, I. S., Paumann-Page, M., Jameson, G. N. L., Winterbourn, C. C., & Kettle, A. J. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.418970 · Cited by 153
“Aceruloplasminemia is a rare autosomal recessive disease that results in iron accumulation in the pancreas, liver, and brain, and patients suffer from diabetes and neurodegeneration (61).”
BackgroundFunctional dissection of astrocyte-secreted proteins: Implications in brain health and diseases
Jha, M. K., Kim, J.-H., Song, G. J., Lee, W., Lee, I. K., Lee, H., An, S. S. A., Kim, S., & Suk, K. (2017) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2017.12.003 · Cited by 156
“A rare autosomal recessive disorder, aceruloplasminemia, which results from the loss of ceruloplasmin in serum and other tissues (Roberti Mdo et al., 2011), is characterized by impaired iron homeostasis (Harris et al., 1998, 1995).”
BackgroundCeruloplasmin in neurodegenerative diseases
Vassiliev, V. B., Harris, Z. L., & Zatta, P. F. (2005) · Brain Research Reviews · doi:10.1016/j.brainresrev.2005.03.003 · Cited by 151
Parkinson's disease: Alterations in iron and redox biology as a key to unlock therapeutic strategies
Ma, L., Azad, M. G., Dharmasivam, M., Richardson, V., Quinn, R. J., Feng, Y., Pountney, D. L., Tonissen, K. F., Mellick, G. D., Yanatori, I., et al. (2021) · Redox Biology · doi:10.1016/j.redox.2021.101896 · Cited by 151
“This includes work examining human aceruloplasminemia, where iron loading occurs in both neurons and glia of the striatum and dentate nucleus of the brain, the parenchymal cells of the liver, pancreas, heart, kidney, spleen and thyroid gland [193,194].”
BackgroundJeong, S. Y., & David, S. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.2922-06.2006 · Cited by 149
“Null mutations of the Cp gene in humans (aceruloplasminemia) result in iron accumulation in various organs including the liver and CNS (Harris et al., 1995; Morita et al., 1995; Yoshida et al., 1995).”
BackgroundDoes oxidative stress change ceruloplasmin from a protective to a vasculopathic factor?
Shukla, N., Maher, J., Masters, J. M., Angelini, G. D., & Jeremy, J. Y. (2006) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2005.11.035 · Cited by 146
“[34] Harris ZL, Takahashi Y, Miyajima H, et al.”
BackgroundBasic and Clinical Aspects of Copper
Harris, E. D. (2003) · Critical Reviews in Clinical Laboratory Sciences · doi:10.1080/10408360390250649 · Cited by 156
Neurodegeneration with brain iron accumulation–clinical syndromes and neuroimaging
Schipper, H. M. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2011.06.016 · Cited by 141
Gitlin, J. D. (1998) · Pediatric Research · doi:10.1203/00006450-199809000-00001 · Cited by 140
Binding and inhibition of myeloperoxidase (MPO): a major function of ceruloplasmin?
Segelmark, M., PERSSON, B., Hellmark, T., & Wieslander, J. (1997) · Clinical & Experimental Immunology · doi:10.1046/j.1365-2249.1997.d01-992.x · Cited by 138
Aceruloplasminemia, an inherited disorder of iron metabolism
Miyajima, H., Takahashi, Y., & Kono, S. (2003) · BioMetals · doi:10.1023/a:1020775101654 · Cited by 136
“Table 4 shows a summary of mutations in the ceruloplasmin gene in aceruloplasminemia (Yoshida et al. 1995; Harris et al. 1995; Daimon et al. 1995; Takahashi et al. 1996; Okamoto et al. 1996; Harris et al. 1996; Yazaki et al. 1998; Miyajima et al. 1999; Kohno et al. 1999; Daimon et al. 2000; Hellman…”
BackgroundInfluentialThe genetics of essential metal homeostasis during development
Kambe, T., Weaver, B. P., & Andrews, G. K. (2008) · genesis · doi:10.1002/dvg.20382 · Cited by 140
“In humans CP deficiency has been associated with late-onset retinal and basal ganglia degeneration (Harris et al., 1995) and increased iron accumulation in the liver and other tissues.”
BackgroundAceruloplasminemia, an iron metabolic disorder
Miyajima, H. (2003) · Neuropathology · doi:10.1046/j.1440-1789.2003.00521.x · Cited by 135
“Aceruloplasminemia is characterized by mutations in the ceruloplasmin gene itself.(5,6) Ceruloplasmin, a multicopper ferroxidase that affects the distribution of tissue iron, has antioxidant effects through the oxidation of ferrous iron to ferric iron.”
BackgroundDavies, K. M., Mercer, J. F. B., Chen, N., & Double, K. L. (2016) · Clinical Science · doi:10.1042/cs20150153 · Cited by 139
Copper Transporting P-Type ATPases and Human Disease
Cox, D. W., & Moore, S. D. P. (2002) · Journal of Bioenergetics and Biomembranes · doi:10.1023/a:1021293818125 · Cited by 137
Metadata
- Authors
- Harris, Z. L., Takahashi, Y., Miyajima, H., Serizawa, M., MacGillivray, R. T., & Gitlin, J. D.
- Affiliations
- Washington University in St. Louis (US)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 1995-03-28
- Volume
- 92
- Issue
- 7
- Pages
- 2539-2543
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC42253
- OpenAlex
- W2132544275
- Cited by
- 558
- References
- 29
- Citations by year
- 2026: 3 · 2025: 7 · 2024: 3 · 2023: 6 · 2022: 6 · 2021: 15 · 2020: 9 · 2019: 12 · 2018: 17 · 2017: 10 · 2016: 13 · 2015: 16 · 2014: 16 · 2013: 22 · 2012: 20
- FWCI
- 16.77
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01hl041536-13)
- National Heart, Lung, and Blood Institute (HL41536)
- Topics
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Nursing › Nutrition and Dietetics › Trace Elements in Health
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Keywords
- aceruloplasminemia, ceruloplasmin, frameshift mutation, iron metabolism, iron accumulation, basal ganglia degeneration, retinal degeneration, ferroxidase, copper oxidase, autosomal recessive disorder, movement disorders, heterozygosity
- MeSH terms
- Amino Acid Sequence, Animals, Basal Ganglia, Base Sequence, Blepharospasm, Ceruloplasmin, DNA, Exons, Female, Humans, Iron, Magnetic Resonance Imaging, Metal Metabolism, Inborn Errors, Middle Aged, Molecular Sequence Data, Reference Values, Retinal Degeneration, Vertebrates, Polymerase Chain Reaction, DNA Primers
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