Effect of homeostatic iron regulator protein gene mutation on Wilson's disease clinical manifestation: original data and literature review.

OBJECTIVE

Wilson's disease (WD) is a hereditary disorder of copper metabolism. The metabolic pathways of copper and iron are interrelated. Our goal was to determine the frequency of the two most common mutations in the coding region of the human iron homeostatic protein gene () in Europe: C282Y (rs1800562) and H63D (rs1799945) in WD patients, as well as to analyze their relation with WD phenotypic traits.

MATERIAL AND METHODS

mutations were studied by PCR RFLP method in 445 WD patients and 102 controls. All patients met the diagnostic criteria of WD 8 International Conference on Wilson Disease and Menkes Disease.

RESULTS

C282Y heterozygotes, both women and men, showed WD symptoms earlier than patients with wild-type genotype 63HD heterozygous men presented symptoms later than 63HH homozygotes, but 63HD women manifested symptoms later than those with 63HH genotype.

CONCLUSIONS

genotype seems to be one of the factors modifying Wilson's disease phenotype.