Cited by 558Neurological diseases and metabolismTrace Elements in HealthIron Metabolism and Disorders

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Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

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Harris, Z L, Takahashi, Y, Miyajima, H, Serizawa, M, MacGillivray, R T, Gitlin, J D·1995·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.92.7.2539PMC PMC42253

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Abstract

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 a ferroxidase, the protein is implicated both in iron metabolism (Frieden, 1980; Harris et al., 1995) and in the antioxidant defense (Halliwell and Gutteridge, 1986; Fleming et al., 1991).”
Background
Ceruloplasmin Plays a Neuroprotective Role in Cerebral Ischemia
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Background
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“Mutation in the ceruloplasmin (CP) gene on chromosome 3 leads to aceruloplasminemia, a multisystemic chronic iron toxicosis characterized by absence of ceruloplasmin, and excessive iron deposition in the brain, liver, and pancreas (Harris et al., 1995; Miyajima et al., 1987).”
Background
Ceruloplasmin is found in milk and amniotic fluid and may have a nutritional role
Wooten, L., Shulze, R., Lancey, R., LIETZOW, M., & Linder, M. C. (1996) · The Journal of Nutritional Biochemistry · doi:10.1016/s0955-2863(96)00127-1 · Cited by 50
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“ported (Yoshida et al., 1995; Harris et al., 1995).”
Background
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Background
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Background
Redox active iron accumulation in aceruloplasminemia
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Background
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Result
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“Aceruloplasminemia is a rare autosomal recessive disease resulting from mutations in the gene encoding ceruloplasmin [10].”
Background
Modulatory Effect of Copper on Nonenzymatic Antioxidants in Freshwater Fish Channa punctatus (Bloch.)
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Background
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“Indeed, free radical-induced lipid peroxidation, nucleic acid damage, and protein oxidation have been suggested to contribute to the pathogenesis of neurodegenerative disorders such as Alzheimer’s, Parkinson’s, and Aceruloplasminemia (Connor et al., 1993; Gerlach et al., 1994; Gotz et al., 1994; Jenner, 1994; Gelman,…”
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“Humans missing Cp accumulate high levels of Fe in the liver and brain (Harris et al. 1995).”
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“Because iron unbalance is implicated in demyelinating and neurodegenerative diseases [33,34] and aceruloplasminemia leads to brain, liver and pancreas iron accumulation with concomitant neuronal damages [35,36], Cp is a putative candidate to mediate neuroprotection during inflammation.”
Background
Retinal Degeneration in Hereditary Ceruloplasmin Deficiency
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“In support of this, mice with a mutation in hephaestin are anaemic and accumulate Fe in the gut (Vulpe et al., 1999) and patients with aceruloplasminaemia suffer from anaemia rather than Cu deficiency (Harris et al., 1995, 1998).”
Background
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase
Huppke, P., Brendel, C., Korenke, G. C., Marquardt, I., Donsante, A., Yi, L., Hicks, J. D., Steinbach, P. J., Wilson, C. J., Elpeleg, O. N., et al. (2012) · Human Mutation · doi:10.1002/humu.22099 · Cited by 37
“These conditions are caused by mutations in ATP7A, ATP7B, or CP [Das et al., 1994; Ferenci, 2004; Harris et al., 1995; Kaler et al., 1994; Kennerson et al., 2010; Moller et al., 2009].”
Background
Hereditary caeruloplasmin deficiency: clinicopathological study of a patient.
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Hereditary hemochromatosis and transferrin receptor 2
Chen, J., & Enns, C. A. (2011) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2011.07.015 · Cited by 38
Cp/Heph mutant mice have iron‐induced neurodegeneration diminished by deferiprone
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Ferroxidase-like activity of Au nanorod/Pt nanodot structures and implications for cellular oxidative stress
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“We performed a direct sequence analysis in accordance with a previously published procedure (1).”
Method
Copper in infectious disease: Using both sides of the penny
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“…(CP) levels in PD patients, and that serum CP reduction is more easily to accelerate the progression of PD than that of serum CP normal patients 36 , which might be the same as the global Cp gene deficiency related parkinsonism symptoms in aceruloplasminemia patients and Cp -/- mice 37,38 .”
Background
The role of the placenta in iron transfer from mother to fetus and the relationship between iron status and fetal outcome
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“More recently, several groups have examined families with hereditary loss of ceruloplasmin and have also shown that iron accumulates in specific tissues (Harris et al. 1998; Harris et al. 1995; Okamoto et al. 1996; Takahashi et al. 1996, Yazaki et al. 1998).”
Background
A fungal multicopper oxidase restores iron homeostasis in aceruloplasminemia
Harris, Z. L., Davis-Kaplan, S. R., Gitlin, J. D., & Kaplan, J. (2004) · Blood · doi:10.1182/blood-2003-11-4060 · Cited by 33
Self-citation
Trace Elements and Healthcare: A Bioinformatics Perspective
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Structure and expression of genes involved in transport and storage of iron in red-blooded and hemoglobin-less antarctic notothenioids
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Neurodegeneration with brain iron accumulation
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“Aceruloplasminemia Aceruloplasminemia is caused by mutation in ceruloplasmin gene[45] with an average age at diagnosis of 51 years.”
Background
Rapid disease progression in adult‐onset mitochondrial membrane protein‐associated neurodegeneration
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WILSON'S DISEASE
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Iron loading inhibits ferroportin1 expression in PC12 cells
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Mottled Mice and Non-Mammalian Models of Menkes Disease
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“Humans and mice suffering from aceruloplasminemia showed a striking impairment in the movement of iron out of reticuloendothelial cells and hepatocytes (Harris et al., 1995).”
Background
HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis
Majore, S., Binni, F., Pennese, A., Santis, A. D., Crisi, A., & Grammatico, P. (2004) · Human Mutation · doi:10.1002/humu.9232 · Cited by 32
Clinical, molecular, and PET study of a case of aceruloplasminaemia presenting with focal cranial dyskinesia
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Impact of copper in Xenopus laevis liver: Histological damages and atp7b downregulation
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Aceruloplasminemia with Juvenile-onset Diabetes Mellitus Caused by Exon Skipping in the Ceruloplasmin Gene
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Hepatic transport systems
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Identification of catalytically important amino acids in human ceruloplasmin by site‐directed mutagenesis
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Modification of ferritin during iron loading
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Hemochromatosis 1988: is one gene enough?
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Ceruloplasmin impairs endothelium-dependent relaxation of rabbit aorta
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“It is certainly involved in iron metabolism, since it possesses a ferroxidase activity (29), and individuals lacking a functional ceruloplasmin gene have an impaired iron metabolism (11).”
Background
Mechanisms of ferroptosis in hypoxic-ischemic brain damage in neonatal rats
Zheng, J., Yu, F., Zhang, M., Gao, Q., Li, J., Yuan, H., Jin, W., Lin, Z., & Lin, W. (2023) · Experimental Neurology · doi:10.1016/j.expneurol.2023.114641 · Cited by 29

Authors: Harris, Z. L., Takahashi, Y., Miyajima, H., Serizawa, M., MacGillivray, R. T., & Gitlin, J. D.
Affiliations: Washington University in St. Louis (US)
ORCID: Harris, Z L
Miyajima, H
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
DOI: 10.1073/pnas.92.7.2539
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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Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

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