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High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda.
Hepatology. 1998 Jan; 27(1):181-4.Hep

Abstract

Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver. Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D. A role for genetic hemochromatosis in the development of iron overload in sporadic PCT has been hypothesized in the past. The aim of this work was to investigate whether mutations of HFE, which is a candidate gene for hemochromatosis, play the role of genetic susceptibility factors for PCT in Italian patients, who have a high prevalence of acquired triggering factors, such as hepatitis C virus (HCV) chronic infection and alcohol. We determined HFE genotypes of 68 male patients with PCT. Our data do not confirm an association of PCT with the Cys282Tyr HFE mutation, strongly associated with hemochromatosis in Northern European countries. A second mutation of HFE, His63Asp, however, had a significantly increased frequency as it was present in half of the patients. Surprisingly, the presence of the His63Asp mutation was not related to the iron status of patients, suggesting that a subtle abnormality of iron metabolism induced by this mutation could escape detection by the standard parameters of iron status. In PCT patients with liver disease, the presence of the mutation could contribute to the inactivation of URO-D, either directly or through a synergistic action with other factors that cause liver damage.

Authors+Show Affiliations

Istituto di Medicina Interna e Fisiopatologia Medica, Università di Milano and IRCCS Ospedale Maggiore, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9425935

Citation

Sampietro, M, et al. "High Prevalence of the His63Asp HFE Mutation in Italian Patients With Porphyria Cutanea Tarda." Hepatology (Baltimore, Md.), vol. 27, no. 1, 1998, pp. 181-4.
Sampietro M, Piperno A, Lupica L, et al. High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Hepatology. 1998;27(1):181-4.
Sampietro, M., Piperno, A., Lupica, L., Arosio, C., Vergani, A., Corbetta, N., Malosio, I., Mattioli, M., Fracanzani, A. L., Cappellini, M. D., Fiorelli, G., & Fargion, S. (1998). High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Hepatology (Baltimore, Md.), 27(1), 181-4.
Sampietro M, et al. High Prevalence of the His63Asp HFE Mutation in Italian Patients With Porphyria Cutanea Tarda. Hepatology. 1998;27(1):181-4. PubMed PMID: 9425935.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. AU - Sampietro,M, AU - Piperno,A, AU - Lupica,L, AU - Arosio,C, AU - Vergani,A, AU - Corbetta,N, AU - Malosio,I, AU - Mattioli,M, AU - Fracanzani,A L, AU - Cappellini,M D, AU - Fiorelli,G, AU - Fargion,S, PY - 1998/1/13/pubmed PY - 1998/1/13/medline PY - 1998/1/13/entrez SP - 181 EP - 4 JF - Hepatology (Baltimore, Md.) JO - Hepatology VL - 27 IS - 1 N2 - Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver. Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D. A role for genetic hemochromatosis in the development of iron overload in sporadic PCT has been hypothesized in the past. The aim of this work was to investigate whether mutations of HFE, which is a candidate gene for hemochromatosis, play the role of genetic susceptibility factors for PCT in Italian patients, who have a high prevalence of acquired triggering factors, such as hepatitis C virus (HCV) chronic infection and alcohol. We determined HFE genotypes of 68 male patients with PCT. Our data do not confirm an association of PCT with the Cys282Tyr HFE mutation, strongly associated with hemochromatosis in Northern European countries. A second mutation of HFE, His63Asp, however, had a significantly increased frequency as it was present in half of the patients. Surprisingly, the presence of the His63Asp mutation was not related to the iron status of patients, suggesting that a subtle abnormality of iron metabolism induced by this mutation could escape detection by the standard parameters of iron status. In PCT patients with liver disease, the presence of the mutation could contribute to the inactivation of URO-D, either directly or through a synergistic action with other factors that cause liver damage. SN - 0270-9139 UR - https://www.unboundmedicine.com/medline/citation/9425935/High_prevalence_of_the_His63Asp_HFE_mutation_in_Italian_patients_with_porphyria_cutanea_tarda_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0270913998000275 DB - PRIME DP - Unbound Medicine ER -