Association of HFE Common Mutations with Parkinson's Disease, Alzheimer's Disease and Mild Cognitive Impairment in a Portuguese Cohort

Overview

Journal BMC Neurol

Publisher Biomed Central

Specialty Neurology

Date 2006 Jul 11

PMID 16824219

Citations 35

Authors

Rita J Guerreiro

Jose M Bras

Isabel Santana

Cristina Januario

Beatriz Santiago

Ana S Morgadinho

Maria H Ribeiro

John Hardy

Andrew Singleton

Catarina Oliveira

Affiliations

Soon will be listed here.

Abstract

Background: Pathological brain iron deposition has been implicated as a source of neurotoxic reactive oxygen species in Alzheimer (AD) and Parkinson diseases (PD). Iron metabolism is associated with the gene hemochromatosis (HFE Human genome nomenclature committee ID:4886), and mutations in HFE are a cause of the iron mismetabolism disease, hemochromatosis. Several reports have tested the association of HFE variants with neurodegenerative diseases, such as AD and PD with conflicting results.

Methods: Genotypes were analysed for the two most common variants of HFE in a series of 130 AD, 55 Mild Cognitive Impairment (MCI) and 132 PD patients. Additionally, a series of 115 healthy age-matched controls was also screened.

Results: A statistically significant association was found in the PD group when compared to controls, showing that the presence of the C282Y variant allele may confer higher risk for developing the disease.

Conclusion: Taken together these results suggest that the common variants in HFE may be a risk factor for PD, but not for AD in the Portuguese population.

Citing Articles

HFE Mutations in Neurodegenerative Disease as a Model of Hormesis.

Marshall Moscon S, Connor J Int J Mol Sci. 2024; 25(6).

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The Iron Metabolism with a Specific Focus on the Functioning of the Nervous System.

Kulaszynska M, Kwiatkowski S, Skonieczna-Zydecka K Biomedicines. 2024; 12(3).

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Efficacy of the iron-chelating agent, deferiprone, in patients with Parkinson's disease: A systematic review and meta-analysis.

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Drug-Resistant Parkinson's Disease in a Patient With Hereditary Hemochromatosis: A Case Report.

Banta C, Zonna X, Lott R, Jaisawal P, Elsisi A Cureus. 2023; 15(9):e44530.

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Quantitative and causal analysis for inflammatory genes and the risk of Parkinson's disease.

Yi M, Li J, Jian S, Li B, Huang Z, Shu L Front Immunol. 2023; 14:1119315.

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