Artículo

Méndez, M.; Rossetti, M.V.; Gómez-Abecia, S.; Morán-Jiménez, M.-J.; Parera, V.; Batlle, A.; Enríquez de Salamanca, R. "Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations" (2012) Molecular Genetics and Metabolism. 105(4):629-633
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Abstract:

Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidation of uroporphyrinogen and other highly carboxylated porphyrinogens overproduced as a result of the enzyme deficiency. PCT is generally sporadic, but about 20-30% of patients have familial-PCT (F-PCT) which is associated with heterozygosity of mutations in the UROD gene. In the present study we have found the molecular defect in seventeen unrelated Argentinean patients with F-PCT, identifying a total of eleven UROD gene mutations: four novel and seven previously described. The novel mutations were: a guanine insertion at the 5' splice junction of intron 2, a three nucleotide deletion causing the lost of valine 90, a deletion of 22. bp in exon 6 and a deletion of part of the polyadenylation signal. Prokaryotic expression studies showed that the novel amino acid deletion resulted in an inactive protein. Mutations c.10insA and p.M165R, previously found in Argentinean patients, were recurrent in this study; they are the most frequent in Argentina accounting for 40% of the mutant alleles characterized to date. © 2012 Elsevier Inc..

Registro:

Documento: Artículo
Título:Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations
Autor:Méndez, M.; Rossetti, M.V.; Gómez-Abecia, S.; Morán-Jiménez, M.-J.; Parera, V.; Batlle, A.; Enríquez de Salamanca, R.
Filiación:Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Universidad Complutense de Madrid, Spain
Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), Hospital de Clínicas, CONICET- UBA, Buenos Aires, Argentina
Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Argentina
Palabras clave:In silico analysis; Mutation analysis; Porphyria cutanea tarda; Prokaryotic expression; Uroporphyrinogen decarboxylase; guanine; nucleotide; uroporphyrinogen decarboxylase; valine; amino acid sequence; Argentina; article; clinical article; familial disease; female; gene deletion; gene insertion; gene mutation; heterozygosity; human; male; molecular pathology; polyadenylation; porphyria cutanea tarda; priority journal; signal transduction; Adolescent; Adult; Argentina; Child; Child, Preschool; DNA; Exons; Female; Genetic Predisposition to Disease; Humans; Introns; Male; Middle Aged; Mutation; Polymerase Chain Reaction; Porphyria Cutanea Tarda; Sequence Deletion; Uroporphyrinogen Decarboxylase; Young Adult; Prokaryota
Año:2012
Volumen:105
Número:4
Página de inicio:629
Página de fin:633
DOI: http://dx.doi.org/10.1016/j.ymgme.2012.02.002
Título revista:Molecular Genetics and Metabolism
Título revista abreviado:Mol. Genet. Metab.
ISSN:10967192
CODEN:MGMEF
CAS:guanine, 69257-39-2, 73-40-5; uroporphyrinogen decarboxylase, 9024-70-8; valine, 7004-03-7, 72-18-4; DNA, 9007-49-2; Uroporphyrinogen Decarboxylase, 4.1.1.37
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10967192_v105_n4_p629_Mendez

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Citas:

---------- APA ----------
Méndez, M., Rossetti, M.V., Gómez-Abecia, S., Morán-Jiménez, M.-J., Parera, V., Batlle, A. & Enríquez de Salamanca, R. (2012) . Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations. Molecular Genetics and Metabolism, 105(4), 629-633.
http://dx.doi.org/10.1016/j.ymgme.2012.02.002
---------- CHICAGO ----------
Méndez, M., Rossetti, M.V., Gómez-Abecia, S., Morán-Jiménez, M.-J., Parera, V., Batlle, A., et al. "Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations" . Molecular Genetics and Metabolism 105, no. 4 (2012) : 629-633.
http://dx.doi.org/10.1016/j.ymgme.2012.02.002
---------- MLA ----------
Méndez, M., Rossetti, M.V., Gómez-Abecia, S., Morán-Jiménez, M.-J., Parera, V., Batlle, A., et al. "Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations" . Molecular Genetics and Metabolism, vol. 105, no. 4, 2012, pp. 629-633.
http://dx.doi.org/10.1016/j.ymgme.2012.02.002
---------- VANCOUVER ----------
Méndez, M., Rossetti, M.V., Gómez-Abecia, S., Morán-Jiménez, M.-J., Parera, V., Batlle, A., et al. Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations. Mol. Genet. Metab. 2012;105(4):629-633.
http://dx.doi.org/10.1016/j.ymgme.2012.02.002