0000000000332059

AUTHOR

Vilma Mantovani

showing 2 related works from this author

Frequency of the HFE Gene Mutations in Five Italian Populations

2002

Abstract ABSTRACT Genetic hemochromatosis is an autosomal recessive disorder characterized by iron overload and a variety of clinical manifestations such as liver cirrhosis and arthropathy. It is the most common genetic disease of northern European populations. The principal gene responsible for hereditary hemochromatosis, designated HFE, is located on chromosome 6 in the HLA region. The single point mutation 845A, changing cysteine at position 282 to tyrosine (C282Y), in this gene has been identified as the main genetic basis of hereditary hemochromatosis. Two other mutations, 187G, a histidine to aspartate at amino acid 63 (H63D), and 193T, a serine to cysteine at amino acid 65 (S65C), ap…

GeneticsPoint mutationHistocompatibility Antigens Class IHaplotypeMembrane ProteinsChromosomeCell BiologyHematologyBiologyAmino Acid Substitution; Gene Frequency; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; Humans; Italy; Membrane ProteinsAmino Acid SubstitutionGene FrequencyItalyHereditary hemochromatosisMutation (genetic algorithm)HumansMolecular MedicineHemochromatosisAlleleHemochromatosis ProteinMolecular BiologyAllele frequencyGeneBlood Cells, Molecules, and Diseases
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Association between HFE mutations and acute myocardial infarction: a study in patients from Northern and Southern Italy.

2003

There is interest in the role of iron in age-related diseases such as atherosclerosis. Tissue iron deposition could be harmful, because Fe(2+) can react with H(2)O(2) to form OH(-) radicals and Fe(2+) can react with O(2) to form reactive oxygen species. Free radicals react with cell membranes and cell organelles and could lead to the development of atherosclerosis by initiating lipid peroxidation. Hereditary hemochromatosis provides an opportunity for studying the effects of iron on cardiovascular disease. Some studies have shown that individuals who carried HFE mutations may be at greater risk of developing coronary heart disease than those without the mutations. In contrast, a large numbe…

Apolipoprotein EAdultMalePathologymedicine.medical_specialtySettore MED/09 - Medicina InternaGenotypePopulationApolipoprotein E4Mutation MissenseMyocardial InfarctionPhysiologyApolipoproteins EGene FrequencyGenotypeMedicineHumansAge FactorMyocardial infarctionAlleleeducationHemochromatosis ProteinMembrane ProteinMolecular BiologyAllele frequencyAgedAged 80 and overeducation.field_of_studybusiness.industryHistocompatibility Antigens Class ICase-control studyAge FactorsMembrane ProteinsCell BiologyHematologyMiddle Agedmedicine.diseaseItalyHereditary hemochromatosisCase-Control StudiesMolecular MedicineFemaleCase-Control StudiebusinessHumanBlood cells, moleculesdiseases
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