Downregulation of MMP3 gene expression in nonsyndromic cleft lip and palate: Insights from the deutero malay ethnic population of Indonesia

Background : Nonsyndromic cleft lip and palate (NS CLP) is among the most common craniofacial malformations, affecting approximately 1 in 1,000 live births worldwide. Genetic factors are recognized as major contributors, and the MMP3 gene has been implicated in NS CLP susceptibility. Aim and Objective : This study aimed to evaluate the mRNA expression profile of the MMP3 gene in the oral epithelium of NS CLP patients within the Deutero Malay ethnic population in Indonesia, providing the first evidence of its potential role as a biomarker for predicting NS CLP risk. Materials and Methods : A case-control design was employed, involving oral epithelial cell samples from 30 NS CLP patients and 30 control subjects. Total RNA was isolated, and gene expression was assessed using real-time PCR. Relative quantification was performed with the Livak method (2−ΔΔCt), and statistical differences were analyzed using the Mann–Whitney test. Results : The results demonstrated that MMP3 mRNA expression was 0.74-fold lower (underexpressed) in NS CLP subjects compared to controls, with a highly significant difference in 2−ΔΔCt values between groups (p = 0.0001). Conclusion : These findings indicate that underexpression of MMP3 mRNA in the oral epithelium is significantly associated with NS CLP among the Deutero Malay ethnic population in Indonesia, highlighting its potential as a molecular biomarker in craniofacial development.