Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort |
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| 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 |
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| Affiliation: | (1) Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, USA;(2) Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal;(3) Neurology Service, University of Coimbra Hospital, Coimbra, Portugal |
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| 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. |
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