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Aceruloplasminemia - DOAJ

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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

"Aceruloplasminemia is a rare autosomal recessive inherited disorder. " Mutations in the ceruloplasmin gene resulted in decreased ferroxide production that leads to iron accumulation. Aceruloplasminemia is a special combination of brain, liver, and systemic iron overload, characterized by high serum ferritin and low transferrin saturation. In a consanguineous North-African family, we present four new cases of aceruloplasminemia. In exon 4 of the ceruloplasmin gene, which had been regarded as of unknown importance c. 656T> A in the dbSNP database but not in the HGMD database, but not associated with ACP. When the proband was still symptomatic and he rapidly declined, he began deferoxamine therapy. The treatment was associated with poor tolerance in the asymptomatic cases, but it was stopped due to anemia requiring red blood cell transfusion in the asymptomatic cases. The need for new therapeutic approaches to aceruloplasminemia is shown by our collection.

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


Aceruloplasminemia: Waiting for an Efficient Therapy

"Aceruloplasminemia is an extremely rare hereditary disorder characterized by defective production of ceruloplasmin. " Ceruloplasmin is a ferric iron oxide deposition and mobilization of iron from shelves, as well as subsequent incorporation of ferric iron into transferrin, which makes it available for cell uptake via the Tf receptor. In addition, ceruloplasmin has antioxidant properties, preventing the production of deleterious reactive oxygen species by the Fenton reaction. Several genes can be more diverse than previously thought, with varying within a wide range. The usual therapeutic strategy is based on iron chelators that are effective in lowering systemic iron overload. Open questions remain regarding the mechanisms contributing to the clinical manifestation and growth of diabetes, as well as the efficacy of iron chelation therapy. Recent research in animal models of aceruloplasminemia point to the possibility of new therapeutic approaches by parenteral ceruloplasmin administration.

Source link: https://doi.org/10.3389/fnins.2018.00903


BRAIN IRON ACCUMULATION: DON’T FORGET ACERULOPLASMINEMIA

"Laboratory results show microcytic anemia, elevated serum ferritin, and a complete absence of serum ceruloplasmin ferroxidase activity. " Brain iron accumulation can be more extensive than previously expected, according to a story about a 52-year-old man who underwent MR examination to help identify a diagnosis of AP that revealed typical iron deposition and unusual T2-weighted/FLAIR hypointensities in the subcortical white matter U fibers, indicating that brain iron accumulation is greater than previously expected. ".

Source link: https://doi.org/10.3269/1970-5492.2020.15.26


Molecular and pathological basis of aceruloplasminemia

"Aceruloplasminemia is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in the brain and visceral organs. " Patients with aceruloplasminemia patients' elevated iron level is correlated with elevated lipid peroxidation in the brains. In addition, deformed astrocytes and globular cells respond positively to anti-4-hydroxynonenal antibody, meaning that elevated oxidative stress is involved in neuronal cell death in aceruloplasminemia brain. We investigated the synthesis of two missense ceruloplasmin proteins that result from a Japanese P177R mutation and a Dutch G631R mutation, using the Chinese hamster ovary cell expression method. The G631R mutant protein, which was expected to change the interaction at a single type I copper-binding site, prevented copper incorporation into apoceruloplasmin, resulting in the synthesis and secretion only of apoceruloplasmin. The study of mutant ceruloplasmin has shed new light on aceruloplasminemia's pathogenesis, biosynthesis, trafficking, and function of ceruloplasmin.

Source link: https://doaj.org/article/ba56ed1bc4c449ed8b7feba04e1e7fe1


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 progressive neurological signs due to iron accumulation in pancreas, retina, liver, and brain. The disease is characterized by mutations in the Ceruloplasmin gene, resulting in a significant decrease or absence of ceruloplasmin ferroxidase activity, contributing to an impairment of iron metabolism. The majority of patients identified so far are from Japan. Here's a summary of the largest series of non-Japanese patients with aceruloplasminemia so far, ranging from 11 families with 13 mutations in the CP gene, 10 of which are novel. All missense mutations were investigated by computational modeling. Low serum ceruloplasmin levels can be readily determined by low serum ceruloplasmin levels.

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


Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis

"Aceruloplasminemia is a rare, adult-onset, autosomal recessive disorder characterized by systemic iron overload due to mutations in the Ceruloplasmin gene, which result in the absence or substantial decrease of CP activity. CP is a ferroxide that plays a key role in iron export from many cells, particularly in the brain, where it maintains the proper iron homeostasis with neuroprotective properties. ACP is unique among systemic iron overload syndromes, e. g. , various forms of genetic hemochromatosis.

Source link: https://doi.org/10.3389/fnins.2019.00325


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

"Methods Data on clinical appearances, diagnosis, and neurological effects of therapy was obtained from three neurologically ill Dutch patients who were treated with phlebotomy as a new therapeutic therapy strategy and compared to other published studies. Patients were neurologically symptomatic and patients without neurological abnormalities were compared between patients receiving medical therapy and those without neurological signs. Result 1 In 48 patients around the world, including our three patients, have been characterized with aceruloplasminemia drug therapy. Although these patients' neurological signs remained stable or improved during therapy, they were not treated significantly shorter than patients who deteriorated neurologically, according to the authors. Conclusions: Early introduction of iron chelation therapy appears to have postponed the onset of neurological manifestations in aceruloplasminemia. We recommend iron chelation therapy with deferiprone in combination with phlebotomy for aceruloplasminemia patients without symptomatic anemia in our study, based on theoretical principles and the observed long-term stability and tolerability.

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

* 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