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Analysis of ARID2 Gene Mutation in Oral Squamous Cell Carcinoma
Lakshmi Prabha Das1, Raghuram Hari Pitty, Kannan Asokan
1Department of Oral Medicine and Radiology, SRM Dental College, Ramapuram, Chennai, India.Email: lakshmi.prabhadas@gmail.com
Abstract:
Background: The ARID2 gene, encoding a sub unit of the chromatin remodelling complex, has a possible tumour suppressor function and has been found to be frequently mutated in various tumours, including gingivo buccal oral squamous cell carcinomas. The present study was designed to analyse the presence of ARID2 gene mutations in the distinct genetic South Indian (Dravidian) population. Materials and Methods: Genomic DNA from thirty biopsy tissue samples of histopathologically confirmed cases of oral squamous cell carcinoma (OSCC) were subjected to PCR amplification with intronic primers encompassing exons 19 and 20 of ARID2. Subsequently, the PCR amplicons were purified and subjected to Sanger sequencing using forward primers for analysis of mutational status. Results: Our study yielded a 6% occurrence of mutations in the ARID2 gene among the thirty OSCC samples. Two samples showed a C(5174)A nonsense mutation whereby the “C” nucleotide was substituted with an “A” nucleotide at position 5174, resulting in the conversion of serine amino acid at codon 1725 to a premature STOP codon. Conclusion: Identification of ARID2 gene mutations in OSCCs in this distinct ethnic population reaffirms that aberrations in the chromatin remodelling complex could indeed also contribute to tumorigenesis, thus providing new insights for future research.
Insights
ARID2 gene mutations were found in 6% of oral squamous cell carcinoma (OSCC) cases in a South Indian population. These mutations in the ARID2 gene, crucial for chromatin remodeling, may contribute to oral cancer development.
Area of Science:
- Genetics
- Molecular Biology
- Oncology
Background:
- The ARID2 gene encodes a subunit of the chromatin remodeling complex.
- ARID2 mutations are implicated in various cancers, including oral squamous cell carcinomas (OSCC).
- The role of ARID2 mutations in the South Indian (Dravidian) population is not well-established.
Purpose of the Study:
- To investigate the frequency and nature of ARID2 gene mutations in OSCC patients from the South Indian population.
- To understand the potential contribution of ARID2 gene aberrations to oral tumorigenesis in this specific ethnic group.
Main Methods:
- Genomic DNA was extracted from 30 histopathologically confirmed OSCC tissue samples.
- Polymerase Chain Reaction (PCR) was used to amplify exons 19 and 20 of the ARID2 gene.
- Purified PCR amplicons were analyzed for mutations using Sanger sequencing.
Main Results:
- Mutations in the ARID2 gene were detected in 6% (2 out of 30) of the analyzed OSCC samples.
- A C(5174)A nonsense mutation was identified, leading to a premature STOP codon at amino acid position 1725.
- This mutation results in the substitution of serine with a STOP codon, potentially affecting protein function.
Conclusions:
- The findings confirm the presence of ARID2 gene mutations in OSCC within the South Indian population.
- Aberrations in the ARID2 gene and its associated chromatin remodeling complex may play a role in oral cancer development.
- This study provides insights into the genetic landscape of OSCC in a distinct ethnic group, suggesting avenues for future research.
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