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Related Experiment Videos

Association between the HFE mutations and longevity: a study in Sardinian population.

Ciriaco Carru1, Giovanni Mario Pes, Luca Deiana

  • 1AKEA Project, Cattedra di Biochimica Clinica, Università di Sassari, viale S. Pietro 43/b, Sassari, Italy.

Mechanisms of Ageing and Development
|April 26, 2003
PubMed
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Hereditary hemochromatosis gene mutations, specifically HFE H63D, show a trend towards increased frequency in Sardinian centenarian women, suggesting a role in longevity. This finding supports the iron-sparing hypothesis for exceptional survival in women.

Area of Science:

  • Genetics
  • Human Longevity
  • Human Physiology

Background:

  • Hereditary hemochromatosis is an HLA-linked disorder of iron metabolism.
  • The C282Y mutation in the HFE gene is a primary cause, with H63D and S65C variants potentially modifying protein function.
  • Previous research indicated a higher prevalence of C282Y in elderly Sicilian women, hinting at a link to longevity.

Purpose of the Study:

  • To investigate the distribution of common HFE gene mutations (C282Y, H63D, S65C) in Sardinian centenarians and controls.
  • To validate and extend previous findings on the association between HFE mutations and longevity in elderly women.
  • To explore potential survival advantages conferred by iron-sparing alleles in centenarian women.

Main Methods:

  • DNA samples from 61 controls and 57 Sardinian centenarians were analyzed.

Related Experiment Videos

  • HFE gene polymorphisms were typed using sequence-specific primers.
  • Allele frequencies were compared between centenarians and controls, with subgroup analysis by gender.

    • Main Results:

    • No significant differences in HFE allele frequencies were found between centenarians and controls overall or by gender.
    • A trend towards increased H63D allele frequency was observed in Sardinian centenarian women (24%) compared to controls (17%).
    • The cumulative frequency of H63D mutations in centenarian and very old women from Sardinia and Sicily combined was significantly higher (22%) than in controls (11%, P=0.008).

    Conclusions:

    • The study did not find significant differences in HFE mutation frequencies between Sardinian centenarians and controls.
    • A trend suggests a higher prevalence of the H63D allele in centenarian women, consistent with prior observations in Sicilian women.
    • These findings support the hypothesis that carrying HFE alleles involved in iron sparing may confer a survival advantage in centenarian women.