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Article

TP53 Mutations in Chagasic Megaesophagus

by
Aparecida Perpetuo Fedossi Silveira
1,*,
Ricardo Quiterio Sartori
2,
Lilian Castiglioni
1,
Heidi Lacerda Alves da Cruz
3,
Eumildo de Campos Junior
1,4,
Cinara Cássia Brandão
1 and
Luiz Carlos de Mattos
1,*
1
Laboratório de Imunogenética, Departamento de Biologia Molecular, Faculdade de Medicina de São José do Rio Preto (FAMERP), São José do Rio Preto 15090-000, SP, Brazil
2
Instituto de Biociências, Letras e Ciências Exatas (IBILCE), Universidade Estadual Paulista Júlio de Mesquita Filho (UNESP), São José do Rio Preto 15054-000, SP, Brazil
3
Laboratory of Immunopathology Keizo Asami, Universidade Federal de Pernambuco (UFPE), Recife 50670-901, PE, Brazil
4
Departamento de Cirurgia do Hospital de Base, Fundação Faculdade Regional de Medicina de São José do Rio Preto (FUNFARME), São José do Rio Preto 15090-000, SP, Brazil
*
Authors to whom correspondence should be addressed.
Curr. Issues Mol. Biol. 2025, 47(4), 229; https://doi.org/10.3390/cimb47040229
Submission received: 24 October 2024 / Revised: 13 November 2024 / Accepted: 14 November 2024 / Published: 27 March 2025
(This article belongs to the Collection Molecular Mechanisms in Human Diseases)
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Abstract

Patients carrying Chagasic megaesophagus (CME) are at high risk for esophageal carcinoma. We aimed to investigate mutations in the TP53 in patients carrying CME. Blood samples from 114 patients with Chagas disease (CD) were used. The samples were subjected to PCR-SSCP analysis and DNA sequencing in exons 5 and 7 of the TP53 gene. We observed mutations in the exon 5 codon 184 (GAT > AAT) in 14.8% of G1 (11/74), 10% of G2 (4/40), and 5% of G3 (2/40). We also observed the codon 185 mutation (AGC > AGG) in 14.8% of G1 (11/74), 10% of G2 (4/40), and 7.5% of G3 (3/40). Regarding Exon 7, a mutation (G > T) was observed in the intronic region in 2.7% of G1 (2/74), 7.5% of G2 (3/40), and none of G3 (0/40). Our study showed, for the first time, simultaneous mutations at codons 184 and 185 of the TP53 gene in patients with CME and Chagasic patients without megaesophagus. More studies are needed to assess whether the simultaneous presence of mutations at codons 184 and 185 increases the risk of developing esophageal carcinoma in these patients.
Keywords: Chagas disease; esophageal achalasia; megaesophagus; esophageal squamous cell carcinoma; TP53 gene Chagas disease; esophageal achalasia; megaesophagus; esophageal squamous cell carcinoma; TP53 gene

Share and Cite

MDPI and ACS Style

Silveira, A.P.F.; Sartori, R.Q.; Castiglioni, L.; Alves da Cruz, H.L.; Junior, E.d.C.; Brandão, C.C.; de Mattos, L.C. TP53 Mutations in Chagasic Megaesophagus. Curr. Issues Mol. Biol. 2025, 47, 229. https://doi.org/10.3390/cimb47040229

AMA Style

Silveira APF, Sartori RQ, Castiglioni L, Alves da Cruz HL, Junior EdC, Brandão CC, de Mattos LC. TP53 Mutations in Chagasic Megaesophagus. Current Issues in Molecular Biology. 2025; 47(4):229. https://doi.org/10.3390/cimb47040229

Chicago/Turabian Style

Silveira, Aparecida Perpetuo Fedossi, Ricardo Quiterio Sartori, Lilian Castiglioni, Heidi Lacerda Alves da Cruz, Eumildo de Campos Junior, Cinara Cássia Brandão, and Luiz Carlos de Mattos. 2025. "TP53 Mutations in Chagasic Megaesophagus" Current Issues in Molecular Biology 47, no. 4: 229. https://doi.org/10.3390/cimb47040229

APA Style

Silveira, A. P. F., Sartori, R. Q., Castiglioni, L., Alves da Cruz, H. L., Junior, E. d. C., Brandão, C. C., & de Mattos, L. C. (2025). TP53 Mutations in Chagasic Megaesophagus. Current Issues in Molecular Biology, 47(4), 229. https://doi.org/10.3390/cimb47040229

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