Research Article
AXIN1 Gene Polymorphism in Fatal Cardiomyopathy Cases: A Cross-Sectional Autopsy Study in Myanmar
Issue:
Volume 14, Issue 4, December 2026
Pages:
148-153
Received:
13 September 2026
Accepted:
22 September 2026
Published:
9 October 2026
Abstract: Background: Cardiomyopathies are important causes of sudden cardiac death, and genetic variation contributes to their pathogenesis. AXIN1 encodes a scaffold protein that negatively regulates the Wnt/β-catenin pathway, which has essential roles in cardiac development and remodelling. The AXIN1 single-nucleotide polymorphism rs1805105 has been associated with susceptibility to dilated cardiomyopathy in a Chinese Han population, but evidence from medicolegal autopsy populations in Myanmar is lacking. Objective: To determine the distribution of AXIN1 rs1805105 genotypes and examine their association with types of fatal cardiomyopathy. Methods: A hospital-based cross-sectional descriptive study included 50 consecutives, histologically confirmed fatal cardiomyopathy cases received for medicolegal autopsy at Mandalay General Hospital from June 2020 to May 2021. Cardiomyopathy type was determined by gross and histopathological examination. DNA extracted from cardiac blood was genotyped for AXIN1 rs1805105 using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Descriptive statistics and Fisher’s exact test were used. Results: The mean age was 46.04 ± 13.11 years; 40 cases (80%) were male. Dilated cardiomyopathy (DCM) was identified in 38 cases (76%), hypertrophic cardiomyopathy (HCM) in 11 (22%), and restrictive cardiomyopathy (RCM) in one (2%). Genotype frequencies were CT in 25 cases (50%), TT in 16 (32%), and CC in nine (18%). Among DCM cases, CT was most frequent (21/38, 55.3%), followed by TT (10/38, 26.3%) and CC (7/38, 18.4%). Genotype distribution differed descriptively across cardiomyopathy types but was not statistically significant (Fisher’s exact p = 0.124). Genotype distribution was also not associated with sex (p = 0.809). Conclusion: AXIN1 rs1805105 variation was present in fatal cardiomyopathy cases, with the CT genotype predominating overall and in DCM. However, this small descriptive autopsy series did not demonstrate a statistically significant association between rs1805105 genotype and cardiomyopathy type. Larger case-control and multicentre studies evaluating additional variants are required.
Abstract: Background: Cardiomyopathies are important causes of sudden cardiac death, and genetic variation contributes to their pathogenesis. AXIN1 encodes a scaffold protein that negatively regulates the Wnt/β-catenin pathway, which has essential roles in cardiac development and remodelling. The AXIN1 single-nucleotide polymorphism rs1805105 has been associ...
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Research Article
Benefits of Testing for the G12D Mutation of the KRAS Gene in Hepatocellular Carcinoma (HCC) in Senegal
Dia Fatou Kine Sy Thorpe*,
Thiam Souleymane,
Samba Abdourahmane,
Soumah Idrissa Yaya,
Diedhiou Fatou,
Agossou Hortence Honorine Medece,
Ka Ibrahima,
Deguenonvo Gabriel Nougnignon Comlan,
Cisse Fatou,
Ndiaye Arame,
Coly Najah Fatou,
Dial Cherif Mouhamed,
Diop Papa Saloum,
Diallo Fatou
Issue:
Volume 14, Issue 4, December 2026
Pages:
154-160
Received:
30 September 2026
Accepted:
13 October 2026
Published:
29 October 2026
Abstract: Background: The mutation of the KRAS proto-oncogene is frequently detected in various cancers, including hepatocellular carcinoma (HCC). This mutation often results in the failure of treatments based on tyrosine kinase receptor inhibitors. The study's objective was to investigate mutations of codon 12 and 13 of the KRAS gene and assess the risk of developing Hepatocellular Carcinoma. Methods: A prospective, cross-sectional, and analytical study was conducted from November 2018 to October 2021 at the biochemistry and molecular biology laboratory of Cheikh Anta Diop University’s Faculty of Medicine. Mutations of codons 12 and 13 were identified using High Resolution Melting and confirmed by sequencing. Hepatic assessments (transaminases, GGT, PAL, bilirubin, and AFP) were performed on all patients, and histopathological analysis was conducted. Results: The study consisted of 34 patients with an average age of 44±3.4 years and a sex ratio of 5.8. There was a predominance in the age group of 36 to 45 years (38.2%). The prevalence of the G12D mutation of the KRAS gene was 23.5% and was more common in subjects over 45 years (n=5; 11.7%). Hepatic impairments were less pronounced in carriers of the G12D mutation of the KRAS gene, albeit not significantly different. Additionally, tumors of grade 3 and type pT3 appeared more linked to the G12D mutation of the KRAS gene, with prevalences of 18.75% (n=3) and 30.8% (n=4), respectively. The relationship between chronic Hepatitis B Virus carriage and the KRAS gene mutation was not significant. Conclusion: Molecular biology significantly contributes to diagnosis and patient management by identifying molecular markers for pre-therapeutic evaluation.
Abstract: Background: The mutation of the KRAS proto-oncogene is frequently detected in various cancers, including hepatocellular carcinoma (HCC). This mutation often results in the failure of treatments based on tyrosine kinase receptor inhibitors. The study's objective was to investigate mutations of codon 12 and 13 of the KRAS gene and assess the risk of ...
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,
Ye Phyo Aung
