Abstract
Molar incisor hypomineralization (MIH) is a developmental defect that affects the enamel tissue of permanent teeth. Clinicians may observe a range of opacities in the affected teeth, varying from white to creamy, yellow, and brown. Of particular interest is an etiology of MIH that has not been rigorously elucidated. Researchers believe that there are many potential etiological factors with strong genetic and/or epigenetic influence. The primary factors contributing to the risk of MIH development include specific medical conditions and circumstances. These encompass prematurity, cesarean delivery, perinatal hypoxia, and various health issues such as measles, urinary tract infections, otitis media, gastrointestinal disorders, bronchitis, kidney diseases, pneumonia, and asthma. Although genetic research in this area has received substantial attention, the investigation of epigenetic factors remains comparatively underexplored. Special attention is given to genes and their protein products involved in amelogenesis. Examples of such genes are AMELX, AMBN, ENAM, TUFT1, FAM83H, and MMP20. The median relative FAM83H gene expression in the control group was 0.038 (0.031-0.061) and 0.045 (0.032-0.087) in the study group in buccal swabs. The median relative TUFT1 gene expression in the control group was 0.328 (0.247-0.456) and 0.704 (0.334-1.183) in the study group in buccal swabs. Furthermore, children with MIH had significantly higher TUFT1 expression levels compared to the control group (p-value = 0.0043). Alterations in the expression of the TUFT1 and FAM83H genes could be contributing factors to MIH pathogenesis. Nonetheless, further investigation is essential to comprehensively elucidate the roles of all analyzed genes in the pathogenesis of MIH.