Gene Mutations in Esophageal Mucosa of Chagas Disease Patients

Autor(es)

Manoel-Caetano, Fernanda Da Silva ^[1] ; Silveira, Aparecida F. P. ^[1] ; Silva, Ana Elizabete ^[1]

Afiliação do(s) autor(es)

^[1] Sao Paulo State Univ, Dept Biol, UNESP, BR-15054000 Sao Jose Do Rio Preto, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: ANTICANCER RESEARCH; v. 29, n. 4, p. 1243-1247, APR 2009.
• Citações Web of Science: 7
• Assunto(s): Doença de Chagas Mutação Análise de sequência de DNA Polimorfismo de um único nucleotídeo Genes p53

Resumo

Background: Chagas disease patients with longstanding megaesophagus have a significantly increased risk for esophageal carcinoma. Materials and Methods: PCR-SSCP analysis and DNA sequencing of esophageal mucosa from Chagas disease patients (with or without megaesophagus) in the exons of the TP53, CDKN2A and FHIT genes were performed. Results: SSCP analysis showed a mobility shift in 2120 patients with grade IV megaesophagus (CDKN2A exon 1 and FHIT exon 7) and in 1/10 patients without megaesophagus (TP53 exons 5 and 8). However, DNA sequencing indicated a silent mutation in exon 7 of the FHIT gene (GCT -> GCC) in codon 88 in only one case of megaesophagus. Conclusion: Gene mutations are rare events in the exons investigated in esophageal mucosa of Chagas disease patients and further investigations are important to clarify the possible involvement of this silent mutation in exon 7 (FHIT gene) in the advanced grades of megaesophagus and esophageal carcinogenesis. (AU)

• Processo FAPESP: 05/54489-4 - Estudo de mutacoes dos genes tp53, fhit e mts-1 e expressao proteica em megaesofago chagasico e associacao com variabilidade genetica do trypanossoma cruzi.
• Beneficiário: Ana Elizabete Silva
• Modalidade de apoio: Auxílio à Pesquisa - Regular