Aceruloplasminemia, an iron metabolic disorder.

Aceruloplasminemia, an iron metabolic disorder. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Aceruloplasminemia, an iron metabolic disorder. Abstract Text:

Aceruloplasminemia is an inherited disorder of iron metabolism caused by the complete lack of ceruloplasmin ferroxidase activity caused by mutations in the ceruloplasmin gene. It is characterized by iron accumulation in the brain as well as visceral organs. Clinically, the disease consists of the triad of adult-onset neurologic disease, retinal degeneration and diabetes mellitus. The neurological symptoms, which include involuntary movements, ataxia, and dementia, reflect the sites of iron deposition. Severe iron overload and extensive neuronal loss were observed in the basal ganglia, while iron deposition and neuronal cell loss were trivial in the frontal cortices. The cerebellar cortex showed marked loss of Purkinje cells. Iron deposition was more prominent in the astrocytes than in the neurons. Excess iron functions as a potent catalyst of biologic oxidation. Astrocytic deformity and globular structures are characteristic features in aceruloplasminemia brains. The globular structures in the astrocytes were seen in proportion to the degree of iron deposition and reacted positively to anti-4-hydroxynonenal, one of the indicators of lipid peroxidation, and anti-ubiquitin antibodies, but not to anti-alpha-synuclein antibody. The lack of ceruloplasmin may primarily damage astrocytes in the aceruloplasminemia brains through lipid peroxidation. Ceruloplasmin may play an essential role in neuronal survival in the central nervous system.

Aceruloplasminemia, an iron metabolic disorder. Publishing Authors By Initials

For similar genetic phenomena: variation (genetics): mutation research abstracts see: genetic phenomena: variation (genetics): mutation research

PUBMED ID PMID:

MEDLINE DATE:

Aceruloplasminemia, an iron metabolic disorder. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Neuropathology : official journal of the Japanese

VOLUME: 23

Page Numbers: 345-50

Journal Abbreviation: Neuropathology

ISSN: 0919-6544

DAY: 10

MONTH: Dec

YEAR: 2003

Aceruloplasminemia, an iron metabolic disorder. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 9606526

Aceruloplasminemia, an iron metabolic disorder. Keywords Mesh Terms:

KEYWORDS: Mutation

MESH TERMS: physiopathology

Chemical & Substance for Abstract: Aceruloplasminemia, an iron metabolic disorder. Information

Substance Name: Ceruloplasmin

Registry Number: EC 1.16.3.1

Grant and Affiliation Information for Aceruloplasminemia, an iron metabolic disorder.

AFFILIATION: First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan. miyajima@hama-med.ac.jp

Country: Australia

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Neuropathology

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Aceruloplasminemia, an iron metabolic disorder Related Publications

• A randomized phase II trial of preoperative exercise to reduce operative risk in gastric cancer patients with metabolic syndrome: adjuvant exercise for general elective surgery (AEGES) study group.
• Aceruloplasminemia, an iron metabolic disorder.
• Clinical Pathology Data from Cynomolgus Monkeys from China in which Diarrhea Was Observed during Quarantine.
• Concerted inhibition and its reversal by end products of aspartate kinase in Brevibacterium flavum.
• Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia.
• Development of murine hepatic sinusoidal endothelial cells characterized by the expression of hyaluronan receptors.
• Development of stabilin2(+) endothelial cells from mouse embryonic stem cells by inhibition of TGFbeta/activin signaling.
• Heterogeneity of guinea pig 7 S antibody. II. 7 S antibodies against p-azobenzenearsonate-bovine gamma-globulin conjugate produced by various lymphoid tissues.
• Heterogeneity of guinea pig 7S antibody. I. 7S antibodies against ovalbumin produced by various lymphoid tissues.
• Heterogeneous incorporation of C14-amino acids into guinea pig 7 S gamma-globulins.
• Junctional adhesion molecule-A, JAM-A, is a novel cell-surface marker for long-term repopulating hematopoietic stem cells.
• Multimeric cytokine receptors.
• Nucleocytoplasmic shuttling of the zinc finger protein EZI Is mediated by importin-7-dependent nuclear import and CRM1-independent export mechanisms.
• Regulation of 3-deoxy-D-arabino-heptulosonate-7-phosphate synthetase in Brevibacterium flavum.
• Short-term Outcome of Laparoscopic Surgery for Rectal Cancer.
• Stimulatory effect of Na + on threonine transport through bacterial cells.
• Studies on contrast visual acuities in normal, cataractous and pseudophakic eyes.
• Thin CdTe detector in diagnostic x-ray spectroscopy.
• Vertical component of the caloric response, including a caloric second phase provoked by positional change: a preliminary report.
• [A follow up study of spastic diplegia in Shiga Prefecture--ambulatory function and career course after school age]
• [Comparison of Tosoh TRCRapid M.TB assay by transcription-reverse transcription concerted reaction (TRC) with Roche COBAS AMPLICOR assay by PCR and with culture for detection of Mycobacterium tuberculosis complex]
• [Lung volume reduction surgery for pulmonary emphysema--report of two cases]
• p75 Neurotrophin receptor is a marker for precursors of stellate cells and portal fibroblasts in mouse fetal liver.