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Aceruloplasminemia - Crossref

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Last Updated: 05 June 2022

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A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report

"Mutations in the ceruloplasmin gene reduce ferroxidase production, which leads to iron accumulation. " Aceruloplasminemia is characterized by a high serum ferritin level and low transferrin saturation, and it uniquely mixes brain, liver, and systemic iron overload. In a consanguineous North-African family, we present here four new cases of aceruloplasminemia. In exon 4 of the ceruloplasmin gene, which had been described before as of "unknown importance" in the dbSNP database but not linked to ACP in the HGMD database, a homozygous missense variant c. 656T > A has been identified as of 'unknown significance'u201d, which had been described as of 'unknown significanceu201d, which had never identified with ACP in the HGMD database and never in the u201do u201d of the ceruloplasmin gene u201d of u201dologin the u201du201dou201cunknown u201d genome, but not associated with ACP registry, but notation derivo genome, but not u201d'snu201d'sNP database but not associated with ACP21tu201cunknown significance u201du201d u201du201d, but not associated with ACP1tu201du201d as of u201du201du201cunknown The proband had mild microcytic anemia, diabetes mellitus, psychosis, and parkinsonism, but the other cases were asymptomatic or mildly anemic, though high serum ferritin and brain iron deposition were noted in all of them. In the asymptomatic patients, the drug was related to inadequate tolerance and was stopped due to anemia necessing red blood cell transfusion. Our series "aceruloplasminemia" needs new therapeutic approaches.

Source link: https://doi.org/10.3389/fnins.2022.906360


Aceruloplasminemia: MRI and Biochemical Profile Clue to Early Diagnosis in an Adolescent

Aceruloplasminemia is a rare autosomal recessive genetic disorder characterized by ceruloplasmin gene mutation, and it most commonly occurs in adults with neurological disorders. " We present a case of an adolescent patient in whom ACP was suspected of iron overload in basal ganglia, thalami, red nuclei, dentate nuclei, and choroid plexus, which was later confirmed by biochemical analysis. "The combination of parenchymal and choroid plexus iron overload should raise the suspicion of ACP," we wrote in this essay.

Source link: https://doi.org/10.1055/s-0041-1736603


Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

"Ceruloplasmin is an abundant alpha 2-serum glycoprotein that accounts for 95% of the copper found in vertebrate species's plasma. " We're here to discuss the identification of a genetic abnormality in a patient who was previously reported to have an absolute absence of circulating serum ceruloplasmin in association with late-onset retinal and basal ganglia degeneration. Although Southern blot analysis of the patient's DNA was normal, PCR amplification of 18 of the 19 exons that made the human ceruloplasmin gene revealed a significant difference in exon 7. These results support earlier reports that ceruloplasmin is a ferroxidase and are remarkably consistent with new studies on the role of a homologous copper oxidase in yeast iron metabolism. According to the clinical and laboratory findings, additional patients with mobility problems and non-classical Wilson disease should be screened for ceruloplasmin gene mutations.

Source link: https://doi.org/10.1073/pnas.92.7.2539


A Novel Ceruloplasmin Mutation Causing Aceruloplasminemia with Diabetes in China

"Background: Hereditary aceruloplasminemia is a rare adult-onset autosomal recessive disease characterized by a ceruloplasmin gene mutation and impaired or absent ceruloplasmin function. " Material and Methods: A 34-year-old Chinese woman with diabetes mellitus characterized by fast plasma glucose increased for more than three years. Both serum ferritin levels, elevated iron saturation, as well as liver and CT scan findings also indicated iron overload in the liver, are all indicative of iron overload in the liver. Conclusion: So far, only 60 families with aceruloplasminemia have been documented worldwide, and the majority of missense and nonsense mutations in the ceruloplasmin gene were found. Until now, there was only one case of aceruloplasminemia in China. We present herein a case of aceruloplasminemia accompanied by diabetes with a novel mucutation of the CP gene, meaning that more attention should be paid to this condition as diabetes is one of the most common signs of it. ".

Source link: https://doi.org/10.2337/db18-1527-p


Increased very long-chain fatty acids in erythrocyte membranes of patients with aceruloplasminemia

"We now have noticed rises in the fatty acids cis -17-hexacosenoic and hexanoic acid in three family members impacted by aceruloplasminemia in the erythrocyte membranes of three family members affected by aceruloplasminemia. " These results show that free radicals produced in people with aceruloplasminemia may interfere with fatty acid peroxisomal oxidation.

Source link: https://doi.org/10.1212/wnl.50.1.130


Quantification of different iron forms in the aceruloplasminemia brain to explore iron-related neurodegeneration

"Abstract Introduction Aceruloplasminemia is ultra-rare neurodegenerative disorder associated with a large brain iron accumulation. " It's unclear which molecular forms of iron remain in the brain of patients with aceruloplasminemia. Because the disorder is associated with at least fivefold rise in brain iron concentration in comparison to the healthy brain, it provides a novel way to investigate the role of iron in neurodegeneration and the molecular basis of iron-sensitive MRI contrast. Result Figures The brain iron pool in aceruloplasminemia was composed of EPR-detectable Fe 3+ ions, magnetic Fe 3+ embedded in the core of ferritin and hemosiderin, and magnetic Fe 3+ embedded in oxidized magnetite/maghemite minerals, including magnetic Fe 3+ embedded in oxidized magnetite/maghemite minerals. In the temporal cortex of the patient with aceruloplasminemia, deep grey matter structures were three times higher in ferrihydrite-iron than the temporal cortex, ferrihydrite-iron, and ferrihydrite-iron were six times more prevalent than the normal condition. Fe 3+ ions and maghemite-iron were 1. 7 times higher in the temporal cortex of aceruloplasminemia in the test group than in the control group. R 2* was the most illustrative of the pattern of iron accumulation and return relaxation rates up to 0. 49 ms -1, largely due to a lack of ferrihydrite-iron. Iron-related neurodegeneration remains mainly attributed to an increase in ferrihydrite-iron, with ferrihydrite-iron increasing in progressively iron-rich neurodegeneration, in iron-sensitive MRI comparisons. ".

Source link: https://doi.org/10.1101/2020.10.15.20206102


Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

"The effects of iron chelation on neurological outcomes have only been reported in case studies, and they are inconsistent. " Patients initiating therapy were compared to patients who were neurologically symptomatic and those with no neurological signs. Although 11/20 neurologically symptomatic patients' neurological symptoms remained stable or improved during therapy, these patients were treated significantly shorter than patients who deteriorated neurologically, according to the authors. Combined iron chelation therapy with deferiprone and phlebotomy for up to 34 months could be effectively administered in our patients without symptomatic anemia, but did not prevent further neurological deterioration. Conclusions The introduction of aceruloplasminemia's neurological signs in the early stages of iron chelation therapy seems to have a long-awaited onset. We recommend iron chelation therapy for aceruloplasminemia patients without symptomatic anemia on a physiological basis and the estimated long-term safety and tolerability in our research.

Source link: https://doi.org/10.1186/s13023-020-01385-w


A Novel Ceruloplasmin Mutation Identified in a Chinese Patient and Clinical Spectrum of Aceruloplasminemia Patients

"Abstract Background and Purpose: Aceruloplasminemia is a rare symptom of iron overload resulting from ceruloplasmin variants. " The whole exome sequencing was performed in a Chinese female patient suspected of ACP, and her medical records were reviewed in detail. We searched for published ACP patients within the last decade, and we present a systematic analysis of their clinical characteristics with results obtained from these study. ACP's diagnosis was confirmed by a novel pathogenic variant and a well-known pathogenic variant within the ceruloplasmin gene. In addition to the case we discussed here, we reviewed 50 ACP patients. Patients with no medical signs were significantly delayed in diagnosis. Patients with ACP often visit various departments, which can result in misdiagnosis. ".

Source link: https://doi.org/10.21203/rs.3.rs-398274/v1


Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis

"Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, liver disease, and chronic neurological signs due to iron accumulation in pancreas, retina, and brain. " An impairment of iron metabolism is caused by mutations in the Ceruloplasmin gene that result in a substantial decrease or absence of ceruloplasmin ferroxidase production, which results in a decrease or absence of iron metabolism. Prosecutors are often irreversible, and Pro Protept diagnosis and therapy are often helpful to prevent neurological disorders. Here, we introduce the first series of non-Japanese patients with aceruloplasminemia published so far, including 13 people from 11 families with 13 mutations in the CP gene, ten of which are novel. Anemia with low transferrin saturation and elevated ferritin levels without inflammation, according to Unexplained anemia, should raise the possibility of aceruloplasminemia, which can be easily detected by low serum ceruloplasmin levels.

Source link: https://doi.org/10.3390/ijms21072374


Aceruloplasminemia and Paroxysmal Nocturnal Hemoglobinuria Uncover Differential Expressions of Ceruloplasmin and Ferroportin in Immune Cells

"Abstract Ceruloplasmin is a multicopper ferrous iron that oxidizes ferrous iron, triggering ferric iron to transferrin. " Ferroportin, the only known iron exporter in mammal cells, has been found in circulating blood cells in aceruloplasminemia and paroxysmal nocturnal hemoglobinuria, a naturally occurring human model of acquired GPI-anchored proteins. CP c. 2879-1 G > T > T > C, and CP c. 2756 T > C, both with undetectable sCP clone mutations, one patient with a large PNH clone clone, and a healthy control were obtained from two patients with aceruloplasminemia with different mutations on the CP gene. Although the preservation of lymphocytic GPI-CP in B lymphocytes in aceruloplasminemia was not unexpected, there are lineage-specific variations in cerebral expression of ceruloplasmin forms between B lymphocytes and monocytes, with potential implications for the importance of iron metabolism in immune responses. We also discovered that the CP c. 2756 T > C patient with monocytic reduction ferroportin had marginally less severe anemia and microcytosis, according to our findings. Lastly, acquired ferroportin deficiency in PNH monocytes means that the absence of GPI-anchored protein not only leads to cell death by complement, but also to intracellular iron retention, the production of reactive oxygen species, and may be involved in PNH monocyte pathophysiology. ".

Source link: https://doi.org/10.1182/blood-2018-99-113485

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions