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Transferrin C2 allele, haemochromatosis gene mutations, and risk for Alzheimer's disease
  1. A Lleó1,
  2. R Blesa1,
  3. C Angelopoulos2,
  4. P Pastor-Rubio2,
  5. M Villa2,
  6. R Oliva2,
  7. E Bufill3
  1. 1Neurology Service, Institut d'Investigacions Biomédiques August Pi i Sunyer, Hospital Clínic, Barcelona, Spain
  2. 2Genetics Service, Institut d'Investigacions Biomédiques August Pi i Sunyer, Hospital Clínic, Barcelona, Spain
  3. 3Neurology Service, Hospital General de Vic, Barcelona, Spain
  1. Correspondence to:
 Dr R Oliva, Genetics Service, Hospital Clínic, Villarroel 170, 08036 Barcelona, Spain;
 roliva{at}clinic.ub.es

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Alzheimer's disease is a neurodegenerative disease characterised pathologically by the presence of neurofibrillary tangles, senile plaques, and selective loss of neurons. Numerous hypotheses have been suggested for the aetiology and pathogenesis of Alzheimer's disease and one that has gained considerable attention is the disruption of the brain iron metabolism in Alzheimer's disease that could lead to an oxidative stress and neuronal damage.1 An increased iron deposition has been found in the Alzheimer's disease brain, especially in the regions containing more senile plaques and neurofibrillary tangles.1,2 Tissue iron can promote oxidative damage through an increase of free radical formation that can lead to subsequent oxidative stress.1 Among genetic risk factors associated with Alzheimer's disease, the APOE genotype is the major genetic risk factor for sporadic and familial late onset disease. Recently, two genetic risk factors involved in iron metabolism have been associated with an increased risk for Alzheimer's disease. The first one is the allele C2 of the transferrin (Tf) gene, an iron transporting protein detected in senile plaques.3,4 In another study5 performed on a small group of patients, mutations in the haemochromatosis associated gene (HFE) were overrepresented in Alzheimer's disease compared with controls. We postulated that if these genetic defects in iron …

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