Association between the HFE mutations and unsuccessful ageing: A study in Alzheimer's disease patients from Northern Italy

Giuseppina Candore, Federico Licastro, Martina Chiappelli, Claudio Franceschi, Domenico Lio, Carmela Rita Balistreri, Giuseppina Piazza, Giuseppina Colonna-Romano, Luigi Maria Grimaldi, Calogero Caruso

Research output: Contribution to journalArticle

Abstract

Mutations in the class I-like Major Histocompatibility Complex gene HFE are associated with hereditary hemochromatosis (HH), a disorder caused by excessive iron uptake. Three common mutations have been found: C282Y, H63D, and S65C. Moreover, several studies have suggested that HFE mutations may be involved in several age-related chronic diseases such as Alzheimer's disease (AD) and coronary heart disease, but apparently paradoxically also with longevity. In particular, in AD, patients carrying the H63D allele have been suggested to have a mean age at onset of 72 vs. 77 years for those who were homozygous for the wild-type allele. Thus, it seems that H63D mutations may anticipate sporadic AD clinical presentation in susceptible individuals. In the present study, we analysed the HFE genotype in 123 patients with sporadic AD and 152 age-matched controls from Northern Italy. Samples were typed for C282Y, H63D and S65C alleles using the polymerase chain reaction and sequence specific primers. No significant differences were observed in frequencies of the different alleles between controls and AD both for the whole group and when the data were analysed according to gender. In addition, we failed to observe any difference in the age at onset between patients carrying the mutant HFE-H63D allele and those homozygous for the wild-type allele, either in men or women. Also taking into account the presence or absence of the APOE-ε4 allele, no significant differences were observed between carriers of the mutant HFE-H63D allele and those homozygous for the wild-type allele. Thus, our study does not support the suggestion that H63D mutations may anticipate sporadic AD clinical presentation in susceptible individuals.

Original languageEnglish
Pages (from-to)525-528
Number of pages4
JournalMechanisms of Ageing and Development
Volume124
Issue number4
DOIs
Publication statusPublished - Apr 1 2003

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Keywords

  • Ageing
  • Alzheimer's disease
  • HFE mutations

ASJC Scopus subject areas

  • Ageing
  • Biochemistry
  • Developmental Biology
  • Developmental Neuroscience

Cite this

Candore, G., Licastro, F., Chiappelli, M., Franceschi, C., Lio, D., Balistreri, C. R., Piazza, G., Colonna-Romano, G., Grimaldi, L. M., & Caruso, C. (2003). Association between the HFE mutations and unsuccessful ageing: A study in Alzheimer's disease patients from Northern Italy. Mechanisms of Ageing and Development, 124(4), 525-528. https://doi.org/10.1016/S0047-6374(03)00031-9