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Study Of Iron Metabolism In Neurodegenerative Diseases

Posted on:2014-07-30Degree:MasterType:Thesis
Country:ChinaCandidate:N WangFull Text:PDF
GTID:2254330425962869Subject:Neurology
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Tested the serum iron and ferritin levels in patients with ALS, andcompared the results with the sex and age matched control group,then to observewhether patients with ALS have disorders of iron metabolism,and to discuss ifthe disorder of iron metabolism is the pathogenesis of ALS.MethodsWe collected17sporadic ALS patients and34sex and age matched healthycontrols in the past two years in our hospital’s outpatient department ofneurology. Then collected their peripheral venous blood for the samples. Weused the automatic biochemical analyzer and the electrochemical luminescenceanalyzer to measure the serum iron and ferritin levels respectively.Result1. Serum iron was16.26±4.03umol/L in male ALS patients,7.03±3.95umol/L in female ALS patients. Serum iron of ALS was lower than that ofcontrol group (P=0.0458and P=0.0076respectively)2. Serum ferritin was221.95±138.2ng/mL in male ALS patients,297.12±498.66ng/mL in female ALS patients. There was no significantdifference between ALS and control group in serum ferritin (P=0.2415andP=0.5393respectively). But the mean of serum ferritin of ALS was higher thanthat of control group in both male and female, so serum ferritin of ALS had anincreasing tendency.ConclusionPatients with ALS have the disorder of iron metabolism. ObjectiveTested the polymorphism of HFE(C282Y and H63D) gene both in patientswith ALS and in healthy control group whose sex and age were matched, thencompared the results, to explore the relationship between HFE genepolymorphism (C282Y and H63D)and ALS.MethodsThe frequencies of genotype and allele of HFE gene (C282Y andH63D)were detected by PCR-RFLP in13patients with sporadic ALS and26normal controls. Using chi-square test of SPSS13.0software to analyze thecount data, and using t test to analyze the measurement data of normaldistribution analysis, P<0.05is considered statistically significant different. Thecorrelation analysis was taken between the results and incidence of ALS.ResultALS group and the control group C282Y gene polymorphismelectrophoresis result images showed that only185bp and146bp two fragmentswere visible, so no gene mutation did find. All the two groups were wildtype. ALS group and the control group H63D gene polymorphismelectrophoresis images showed that138bp and70bp two fragments were visible,so we did not find any gene mutations, all the two group were wild type.ConclusionThe gene polymorphism of HFE may be unrelated with ALS. ObjectiveTested the polymorphism of HFE(C282Y and H63D) gene both in patientswith ischemic stroke and in healthy control group whose sex and age were matched, then compared the results to explore the association of HFE genepolymorphism and ischemic stroke.MethodsThe frequencies of genotype and allele of HFE gene were detected byPCR-RFLP in200patients with ischemic stroke and100normal controls. Usingthe goodness-of-fit test to analyze case and control groups’ genotypes frequencythat the distribution is in accordance with the Hardy-Weinberg (H-W) balance.Using chi-square test of SPSS13.0software to analyze the count data, and usingt test to analyze the measurement data of normal distribution analysis, P<0.05isconsidered statistically significant. The correlation analysis was taken betweenthe results and incidence of ischemic stroke. In order to provide the theory basisfor the prevention and treatment of ischemic stroke.ResultNo HFE C282Y mutant was found in both groups. The frequencies ofgenotype and allele of HFE H63D were no significant difference between thegroups (P>0.05)ConclusionThe gene polymorphism of HFE may be unrelated with ischemic stroke.
Keywords/Search Tags:amyotrophic lateral sclerosis, iron, ferritin, oxidative stress, motorneuron disease, neurodegenerative diseaseamyotrophic lateral sclerosis (ALS), HFE gene, genepolymorphismischemic stroke, gene polymorphism
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