Repair genes expression profile of MLH1, MSH2 and ATM in the normal oral mucosa of chronic smokers

Arch Oral Biol. 2017 Jan;73:60-65. doi: 10.1016/j.archoralbio.2016.09.006. Epub 2016 Sep 16.


Objective: The aim of this study was to evaluate the effect of chronic smoking on the expression profile of the repair genes MLH1, MSH2 and ATM in the normal oral mucosa of chronic smokers and never smokers.

Materials and methods: The sample consisted of thirty exfoliative cytology smears per group obtained from Smokers and Never Smokers. Total RNA was extracted and expression of the MLH1, MSH2 and ATM genes were evaluated by quantitative real-time and immunocytochemistry. The gene and protein expression data were correlated to the clinical data. Gene expression was analyzed statistically using the Student t-test and Pearson's correlation coefficient, with p<0.05.

Results: MLH1, MSH2 and ATM genes were downregulated in the smoking group compared to the control with significant values for MLH1 (p=0.006), MSH2 (p=0.0001) and ATM (p=0.0001). Immunocytochemical staining for anti-MLH1, anti-MSH2 and anti-ATM was negative in Never Smokers; in Smokers it was rarely positive. No significant correlation was observed among the expression of MLH1, MSH2, ATM and age, number of cigarettes consumed per day, time of smoking during life, smoking history or levels of CO in expired air.

Conclusion: The expression of genes and proteins related to DNA repair mechanism MLH1, MSH2 and ATM in the normal oral mucosa of chronic smokers was reduced.

Keywords: Carcinoma; Gene expression immunocytochemistry; Smoking; Squamous cell.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Ataxia Telangiectasia Mutated Proteins / genetics*
  • Ataxia Telangiectasia Mutated Proteins / metabolism
  • DNA Repair
  • Down-Regulation
  • Gene Expression
  • Humans
  • Immunohistochemistry
  • Middle Aged
  • Mouth Mucosa / metabolism*
  • MutL Protein Homolog 1 / genetics*
  • MutL Protein Homolog 1 / metabolism
  • MutS Homolog 2 Protein / genetics*
  • MutS Homolog 2 Protein / metabolism
  • Smoking*


  • MLH1 protein, human
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • MSH2 protein, human
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein