TGFβ3 expression in non-syndromic orofacial clefts

SummaryBackgroundGenetic studies have demonstrated that non-syndromic cleft is composed of two separate entities – cleft palate only (CPO) and cleft of lip, alveolus with or without cleft palate (CL ± P) –, both have a heterogeneous genetic background and environmental factors contribute to the onset of these malformations. Previous studies have shown that TGFβ3 could be involved in these diseases, but no conclusive results have been reached.PurposeIn order to detect if TGFβ3 has a role in cleft diseases, a series of non-syndromic cleft patients and controls are analyzed for TGFβ3 protein expression.Material and methodsForty-three non-syndromic cleft patients and 21 unaffected subjects were involved in this study. Paraffin-embedded specimens were matched with the TGFβ3 antibody and then scanned with a computerized image analyzer. TGFβ3 was found to be absent (less than 10%), moderate (from 10% to 30%) and highly expressed (higher than 30%) in epithelium (EP), minor palatal salivary gland (GL) and fibres of elevator palati muscle (MU). Data was statistically analyzed with a Kruskal–Wallis test.ResultsOnly GL and EP have a statistically significant lower expression in non-syndromic cleft compared to unaffected subjects. A subsequent comparison between CL ± P and CPO groups demonstrates a statistically significant difference only for GL, with a lower expression in GL of CPO patients.ConclusionsTGFβ3 is decreasingly expressed in GL of unaffected CL ± P and CPO patients and thus further strength is given to a pathogenetic role of TGFβ3 in the onset of clefts.