Search results for "Ceruloplasmin"

Studies on the population genetics of the ceruloplasmin polymorphism

1969

Phenotype and gene frequencies of the ceruloplasmin polymorphism are reported. In all populations considered here (Germans, Icelanders, Iranians, Pakistani, and Koreans) high frequencies of the allele CpB (0.978–0.996) could be observed, whilst the frequencies of the alleles CpA (0.003–0.013) and CpC (0.000–0.013) are very low.

On the population genetics of the ceruloplasmin polymorphism

1972

The frequencies of Cp-variants in 3 European, 1 Asiatic and 3 African populations are reported. The most striking fact is the high incidence of the CpA-allele not only in the African but also in 2 European samples.

Study of some serum group systems in the Mahishyas and the Muslims in 24-Parganas district, West Bengal

1974

A survey of serum Pi, Cp, Hp and Tf was carried out in 104 Bengali Hindu Mahishya and 123 Bengali Muslim of West Bengal, India.

An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia

2017

We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect. Neither CDG panel analysis with 79 CDG-related genes, nor whole exome sequencing revealed the cause of this CDG. Whole genome sequencing was not performed since th…

Potential Antioxidant Activity of Calcium and Selected Oxidative Stress Markers in Lead- and Cadmium-Exposed Workers

2020

Occupational lead (Pb) and cadmium (Cd) exposure occurs during processing and casting of nonferrous metals such as zinc. In contrast to Pb and Cd, Ca is essential for living organisms due to its important role in a multitude of functions, from cell signaling to bone growth. Pb and Cd exposure affects calcium metabolism in various ways. The aim of this study was to investigate the blood levels of Pb, Cd, and Ca and the levels of selected oxidative stress biomarkers in workers exposed to Pb and Cd. Population groups included 264 male employees in a lead-zinc smelter. The study population was divided into two subgroups based on the median of Ca serum level (2.42 mmol/l): the low-Ca-level group…

Comparative Quantitative Analysis of Porcine Optic Nerve Head and Retina Subproteomes

2019

Optic nerve head (ONH) and retina (RET) are the main sites of damage in neurodegenerative optic neuropathies including glaucoma. Up to date, little is known about the molecular interplay between these two adjoining ocular components in terms of proteomics. To close this gap, we investigated ONH and RET protein extracts derived from porcine eyes (n = 12) (Sus scrofa domestica Linnaeus 1758) using semi-quantitative mass spectrometry (MS)-based proteomics comprising bottom-up LC&ndash

Hp, Gc, Cp, Tf, Bg and Pi phenotypes in leprosy patients and healthy controls from West Bengal (India)

1972

On a sample of n=601 leprous individuals and n=386 healthy controls from West Bengal (India) the question is discussed, if there are existing any associations between leprosy and several serum protein groups like haptoglobin, Gc, ceruloplasmin, transferrin, β2 I and Pi. No associations were found concerning the haptoglobins and transferrins. Certain associations came out respecting ceruloplasmin, β2 I and Pi phenotypes. However, these associations, which were found in connection with the different types and clinical courses of leprosy, should be reexamined by further research. The most striking results were obtained concerning the Gc proteins. In accordance with previously performed investi…

DESCRIPTION OF THE FOURTH CASE OF ACERULOPLASMINEMIA FOUND IN ITALY

2008

Zaburzenia metabolizmu miedzi w przebiegu choroby Wilsona

2022

Choroba Wilsona jest rzadką chorobą genetyczną charakteryzującą się zaburzonym metabolizmem miedzi. Dziedziczona jest w sposób autosomalny recesywny. Kluczowym organem odpowiedzialnym za metabo- lizowanie miedzi jest wątroba. Specyficzność substratową do jonów miedzi posiada białko transportowe ATP-aza typu P-ATP7B. Enzym przyczynia się do fizjologicznego transportu miedzi we wnętrzu komórki i jego wydalania z organizmu. Zmiany w genie kodującym białko ATP7B powodują nieprawidłowe funkcjonowania enzymu i brak jego współpracy z białkiem opiekuńczym ATOX1. W efekcie miedź nie zostaje przyłączona do ceruloplazminy oraz nie jest wydalana do jelit. Następuje gromadzenie pierwiastka we wnętrzu ko…

Aceruloplasminemia: a case report

2008

Hereditary aceruloplasminemia is a rare autosomal recessive disease, firstly identified by Miyajima et al. in Japan in 1987 [1]. The disease is caused by the absence of an a2glycoprotein, the ceruloplasmin (Cp), a copper-containing ferroxidase, mainly synthesized in hepatocytes and widely expressed, including the central nervous system, which catalyses the oxidation of ferrous to ferric iron, a change required for release of iron to plasma transferrin [2]. It is hypothesized that in reticuloendothelial (RE) cells and hepatocytes Cp cooperates to export iron with the iron exporter protein ferroportin 1 (FPN1) [3]. As a consequence, Cp deficiency results in iron deposition in the liver, pancr…