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Titolo:
Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda
Autore:
Brady, JJ; Jackson, HA; Roberts, AG; Morgan, RR; Whatley, SD; Rowlands, GL; Darby, C; Shudell, E; Watson, R; Paiker, J; Worwood, MW; Elder, GH;
Indirizzi:
Univ Wales Hosp, Dept Med Biochem, Cardiff CF4 4XW, S Glam, Wales Univ Wales Hosp Cardiff S Glam Wales CF4 4XW rdiff CF4 4XW, S Glam, Wales Univ Wales Hosp, Dept Haematol, Cardiff CF4 4XW, S Glam, Wales Univ Wales Hosp Cardiff S Glam Wales CF4 4XW rdiff CF4 4XW, S Glam, Wales Univ Wales Coll Med, Cardiff CF4 4XN, S Glam, Wales Univ Wales Coll Med Cardiff S Glam Wales CF4 4XN f CF4 4XN, S Glam, Wales St Jamess Hosp, Dept Biochem, Dublin, Ireland St Jamess Hosp Dublin Ireland amess Hosp, Dept Biochem, Dublin, Ireland Our Ladys Hosp Sick Children, Dept Dermatol, Dublin, Ireland Our Ladys Hosp Sick Children Dublin Ireland t Dermatol, Dublin, Ireland Univ Witwatersrand, S African Inst Med Res, Dept Chem Pathol, Johannesburg, South Africa Univ Witwatersrand Johannesburg South Africa Johannesburg, South Africa
Titolo Testata:
JOURNAL OF INVESTIGATIVE DERMATOLOGY
fascicolo: 5, volume: 115, anno: 2000,
pagine: 868 - 874
SICI:
0022-202X(200011)115:5<868:COMITU>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
HLA-LINKED HEMOCHROMATOSIS; GRADIENT GEL-ELECTROPHORESIS; HFE MUTATIONS; HEPATOERYTHROPOIETIC PORPHYRIA; HEREDITARY HEMOCHROMATOSIS; HEPATITIS-C; LINKAGE-DISEQUILIBRIUM; TRANSFERRIN SATURATION; ITALIAN PATIENTS; C282Y MUTATION;
Keywords:
uroporphyrinogen decarboxylase; hemochromatosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
62
Recensione:
Indirizzi per estratti:
Indirizzo: Elder, GH Univ Wales Hosp, Dept Med, Heath Pk, Cardiff CF4 4XN, S Glam, Wales Univ Wales Hosp Heath Pk Cardiff S Glam Wales CF4 4XN lam, Wales
Citazione:
J.J. Brady et al., "Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda", J INVES DER, 115(5), 2000, pp. 868-874

Abstract

Porphyria cutanea tarda is a skin disease caused by photosensitization by porphyrins whose accumulation is caused by deficiency of hepatic uroporphyrin- ogen decarboxylase activity. Mutations in the uroporphyrinogen decarboxylase gene are present in the low-penetrant, autosomal dominant familial form but not in the commoner sporadic form of porphyria cutanea tarda. We have investigated the relationship between age of onset of skin lesions and mutations (C282Y, H63D) in the hemochromatosis gene in familial (19 patients)and sporadic porphyria cutanea tarda (65 patients). Familial porphyria cutanea tarda was identified by mutational analysis of the uroporphyrinogen decarboxylase gene. Five previously described and eight novel mutations (A80S, R144P, L216Q, E218K, L282R, G303S, 402-403delGT, IVS2 + 2 delTAA) were identified. Homozygosity for the C282Y hemochromatosis mutation was associated with an earlier onset of skin lesions in both familial and sporadic porphyria cutanea tarda, the effect being more marked in familial porphyria cutanea tarda where anticipation was demonstrated in family studies. Analysis of the frequencies of hemochromatosis genotypes in each type of porphyria cutanea tarda indicated that C282Y homozygosity is an important susceptibility factor in both types but suggested that heterozygosity for this mutation has much less effect on the development of the disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/07/20 alle ore 06:17:02