Gene mutations in esophageal mucosa of chagas disease patients.
BACKGROUND
Chagas disease patients with longstanding megaesophagus have a significantly increased risk for esophageal carcinoma.


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 2/20 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.


CONCLUSIONS
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.
DA Silva Manoel-Caetano
Fernanda
F
Universidade Estadual Paulista, Departamento de Biologia, Rua Cristóvão Colombo, 2265, SP, Brazil.
Silveira
Aparecida F P
AF
Silva
Ana Elizabete
AE
D017766:Acid Anhydride Hydrolases / Q000235:genetics*; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D014355:Chagas Disease / Q000235:genetics* / Q000473:pathology; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D024202:Electrophoretic Mobility Shift Assay; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000473:pathology; D004947:Esophagus / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011379:Prognosis; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D000099170:Bis(5'-adenosyl)triphosphatase
D017766:Acid Anhydride Hydrolases; D019941:Cyclin-Dependent Kinase Inhibitor p16; D009363:Neoplasm Proteins; D016159:Tumor Suppressor Protein p53; D000099170:Bis(5'-adenosyl)triphosphatase; C495901:TP53 protein, human