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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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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