ArticleFrontiers in aging neuroscience2013
Effects of hemochromatosis and transferrin gene mutations on peripheral iron dyshomeostasis in mild cognitive impairment and Alzheimer's and Parkinson's diseases.
Article in Frontiers in aging neuroscience, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 34 citations in OpenAlex.
- Sex Hormones and Iron-Related Biomarkers Associate with EMT Features and Tumor Stage in Colorectal Cancer: A Serum- and Tissue-Based Analysis.International journal of molecular sciences · 2025Article
- HFE Mutations in Neurodegenerative Disease as a Model of Hormesis.International journal of molecular sciences · 2024Review
- Abnormalities in Copper Status Associated with an Elevated Risk of Parkinson's Phenotype Development.Antioxidants (Basel, Switzerland) · 2023Review
- Quantitative and causal analysis for inflammatory genes and the risk of Parkinson's disease.Frontiers in immunology · 2023Article
- Iron metabolism in diabetes-induced Alzheimer's disease: a focus on insulin resistance in the brain.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2018Review
- Parkinsonism in Inherited Metabolic Disorders: Key Considerations and Major Features.Frontiers in neurology · 2018Review
- Unraveling the genes implicated in Alzheimer's disease.Biomedical reports · 2017Article
- Biological and Clinical Implications of Comorbidities in Parkinson's Disease.Frontiers in aging neuroscience · 2017Review
- Reduced white matter MRI transverse relaxation rate in cognitively normal H63D-HFE human carriers and H67D-HFE mice.Brain imaging and behavior · 2016Article
- Determination of Serum Ceruloplasmin Concentration in Patients with Primary Open Angle Glaucoma with Cataract and Patients with Cataract Only: A Pilot Study.Medical science monitor : international medical journal of experimental and clinical research · 2016Article
- Deficits of learning and memory in Hemojuvelin knockout mice.The Journal of veterinary medical science · 2015Article
- The relationship between iron dyshomeostasis and amyloidogenesis in Alzheimer's disease: Two sides of the same coin.Neurobiology of disease · 2015Review
- Cumulative lead exposure is associated with reduced olfactory recognition performance in elderly men: The Normative Aging Study.Neurotoxicology · 2015Article
- Editorial: Metals and neurodegeneration: restoring the balance.Frontiers in aging neuroscience · 2015Article
- Eryptosis as a marker of Parkinson's disease.Aging · 2014Article
- Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation.Human genome variation · 2014Article
- The essential elements of Alzheimer's disease.The Journal of biological chemistryReview
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deregulation of iron metabolism has been observed in patients with neurodegenerative diseases. We have carried out a molecular analysis investigating the interaction between iron specific gene variants [transferrin (TF, P589S), hemochromatosis (HFE) C282Y and (H63D)], iron biochemical variables [iron, Tf, ceruloplasmin (Cp), Cp:Tf ratio and % of Tf saturation (% Tf-sat)] and apolipoprotein E (APOE) gene variants in 139 Alzheimer's disease (AD), 27 Mild Cognitive Impairment (MCI), 78 Parkinson's disease (PD) patients and 139 healthy controls to investigate mechanisms of iron regulation or toxicity. No difference in genetic variant distributions between patients and controls was found in our Italian sample, but the stratification for the APOEε4 allele revealed that among the APOEε4 carriers was higher the frequency of those carriers of at least a mutated TF P589S allele. Decreased Tf in both AD and MCI and increased Cp:Tf ratio in AD vs. controls were detected. A multinomial logistic regression model revealed that increased iron and Cp:Tf ratio and being man instead of woman increased the risk of having PD, that increased values of Cp:Tf ratio corresponded to a 4-fold increase of the relative risk of having MCI, while higher Cp levels were protective for PD and MCI. Our study has some limitations: the small size of the samples, one ethnic group considered, the rarity of some alleles which prevent the statistical power of some genetic analysis. Even though they need confirmation in larger cohorts, our data suggest the hypothesis that deregulation of iron metabolism, in addition to other factors, has some effect on the PD disease risk.
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