Ferritin concentrations in low-birth babies in South-west Nigeria

In the absence of acute phase reaction, ferritin concentration has been used as a standard measurement of iron stores. Low birth weight babies are at risk of developing iron lack because ferritin concentration at birth is influenced by duration of gestation, maternal iron status and conditions altering maternal­foetal iron exchange. Aim: The aim of this study was to determine the ferritin concentrations of low birth weight babies in comparison with that of normal birth weight babies. Materials and methods: Fortyfour normal birth weight (NBW) babies and 40 low birth weight (LBW) babies were recruited for the study. About 1.0ml of venous blood was drawn aseptically from each subject into a micro EDTA tube, centrifuged at 5000rpm for 5 minutes, the plasma separated into cryotubes and stored at-20oC until ready for quantitative determination of ferritin concentrations using direct immunoenzymatic colorimetric method.Data obtained was analysed statistically using the Statistical Package for Social Sciences (SPSS,version 23, Chicago, IL, USA). Results: Gestational age correlated positively with ferritin concentrations in LBW neonates (p<0.05)while APGAR score correlatepositively with ferritin concentrations in normal birth weight babies (r=0.398; p<0.05). Thoug not statistically significant (p=0.214), median values for ferritin concentrations were 188.5µg/ dl and 373µg/dl for LBW and NBW neonates respectively. Conclusion: Gestational age correlated positively with ferritin concentrations in LBW neonates

Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy

No abstract available.

Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome / Mutações no gene da cadeia leve da ferritina em duas famílias brasileiras com síndrome hereditária hiperferritinemia-catarata

ABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5'UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this syndrome is still a poorly understood. We report two cases of unrelated Brazilian families with clinical suspicion of the syndrome, which were treated in our department. For the definitive diagnosis, the affected patients, their parents and siblings were submitted to Sanger sequencing of the 5'UTR region for detection of the ferritin light gene mutation. Single nucleotide polymorphism-like mutations were found in the affected patients, previously described. The test assisted in making the accurate diagnosis of the disease, and its description is important so that the test can be incorporated into clinical practice.

RESUMO A síndrome hereditária hiperferritinemia-catarata é uma doença genética autossômica dominante associada a mutações na região 5'UTR do gene da cadeia leve da ferritina. Estas mutações elevam os níveis de ferritina, mesmo na ausência de sobrecarga de ferro. Os pacientes também desenvolvem catarata bilateral precocemente, devido ao acúmulo de ferritina no cristalino, e muitos são erroneamente diagnosticados como portadores de hemocromatose, sendo tratados de maneira inadequada. Os primeiros casos foram descritos em 1995, e diversas mutações já foram identificadas. Entretanto, essa síndrome ainda é pouco conhecida. Relatamos dois casos de famílias brasileiras, não relacionadas, com suspeita clínica da síndrome, que foram atendidas em nosso serviço. Para o diagnóstico definitivo, os pacientes afetados, seus pais e irmãos foram submetidos à pesquisa de mutação do gene ferritina, por sequenciamento de Sanger da região 5'UTR. Foram encontradas mutações do tipo polimorfismo de nucleotídeo único nos pacientes afetados, já descritas anteriormente. O teste auxiliou no diagnóstico preciso da doença e é importante ser divulgado, para ser incorporado na prática clínica.

In vitro MRI and Characterization of Rat Mesenchymal Stem Cells Transduced with Ferritin as MR Reporter Gene

PURPOSE: This study was performed to evaluate the characteristics of rat mesenchymal stem cells (RMSCs) transduced with human ferritin gene and investigate in vitro MRI detectability of ferritin-transduced RMSCs. MATERIALS AND METHODS: The RMSCs expressing both myc-tagged human ferritin heavy chain subunit (myc-FTH) and green fluorescence protein (GFP) were transduced with lentiviurs. Transduced cells were sorted by GFP expression using a fluorescence-activated cell sorter. Myc-FTH and GFP expression in transduced cells were detected by immunofluorescence staining. The cell proliferative ability and viability were assessed by MTT assay. The RMSC surface markers (CD29+/CD45-) were analyzed by flow cytometry. The intracellular iron amount was measured spectrophotometically and the presence of ferritin-iron accumulation was detected by Prussian blue staining. In vitro magnetic resonance imaging (MRI) study of cell phantoms was done on 9.4 T MR scanner to evaluate the feasibility of imaging the ferritin-transduced RMSCs. RESULTS: The myc-FTH and GFP genes were stably transduced into RMSCs. No significant differences were observed in terms of biologic properties in transduced RMSCs compared with non-transduced RMSCs. Ferritin-transduced RMSCs exhibited increased iron accumulation ability and showed significantly lower T2 relaxation time than non-transduced RMSCs. CONCLUSION: Ferritin gene as MR reporter gene could be used for non-invasive tracking and visualization of therapeutic mesenchymal stem cells by MRI.

Expression of apoC1 and FTL Genes in Human with Carotid Atherosclerosis

PURPOSE: The pathogenesis of carotid atherosclerosis (CA) is known to involve several pathologic processes, such as lipid disturbances, thrombosis, oxidative stress and apoptosis. However, the genetic factors contributing to the development of CA, are, poorly understood. Thus, this study was performed to clarify the genes that are related with CA by comparing the expression patterns of mRNA in the arteries of a control group and in the arteries of a CA patients group. MATHODS: The total RNAs in the arteries of both groups were obtained from the abdominal aorta of 5 brain death donors and also the carotid arteries of 10 CA patents, and the DNAs were then reversely transcribed into complementary DNA (cDNA). The annealing control primer (ACP) method was applied to identify the differentially expressed messenger RNAs (mRNAs). RESULTS: The prominently expressed genes in the CA group compared with the control group were those of apolipoprotein C1 (apoC1) and ferritin light chain (FTL). There was a difference in the gene and protein expressions in the development of vascular disease between the coronary and carotid arteries, i.e., the transcriptional pathway for the FTL expression in CA patient arteries, and the posttranscriptional pathway in the coronary artery disease. The ApoC1 gene was another prominently expressed gene in the current study, and it has been reported to promote apoptosis in the cultured smooth muscle cells of human aorta. CONCLUSION: The increased expression of the apoC1 and FTL genes in the carotid artery might increase the possibility of CA via the apoptosis and oxidation of the increased LDL and VLDL.

Expression Profiles of Immune-related Genes in Fluoxetine-treated Human Mononuclear Cells by cDNA Microarray

To investigate the effect of fluoxetine, one of selective serotonin reuptake inhibitors (SSRIs), on the immune system, human peripheral blood mononuclear cells (PBMC) were treated with fluoxetine (10 7 M) for 24 h, and immune-related genes were analyzed by cDNA microarray. Expression of the immune- related genes such as CD107b (LAMP-2), CD47 receptor (thrombospondin receptor), CD5 antigen-like (scavenger receptor cysteine rich family), copine III (CPNE3), interleukin (IL) -18 (interferon-gamma- inducing factor), integrin alpha 4 (CD49d), integrin alpha L subunit (CD11a), IL-3 receptor alpha subunit, L apoferritin, and small inducible cytokine subfamily A (Cys-Cys) member 13 (SCYA13) was induced by fluoxetine. This result suggests that fluoxetine may affect the immune system, and provides fundamental data for the involvement of SSRIs on immunoregulation.