TGFbeta3 expression in non-syndromic orofacial clefts

Genetic 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 malfor...

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Published in:International journal of pediatric otorhinolaryngology 2006-10, Vol.70 (10), p.1759-1764
Main Authors: Rullo, Rosario, Gombos, Fernando, Ferraraccio, Franca, Farina, Antonio, Morano, Danila, Festa, Vincenzo M, Guida, Luigi, Martinelli, Marcella, Scapoli, Luca, Pezzetti, Furio, Carinci, Francesco
Format: Article
Language:English
Subjects:
Case-Control Studies
Child, Preschool
Cleft Lip - genetics
Cleft Palate - genetics
Epithelium - metabolism
Female
Gene Expression
Humans
Image Processing, Computer-Assisted
Immunohistochemistry
Infant
Male
Palate - metabolism
Regression Analysis
Salivary Glands, Minor - metabolism
Staining and Labeling
Transcription Factors
Transforming Growth Factor beta3 - biosynthesis
Transforming Growth Factor beta3 - genetics
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Summary:Genetic 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 TGFbeta3 could be involved in these diseases, but no conclusive results have been reached. In order to detect if TGFbeta3 has a role in cleft diseases, a series of non-syndromic cleft patients and controls are analyzed for TGFbeta3 protein expression. Forty-three non-syndromic cleft patients and 21 unaffected subjects were involved in this study. Paraffin-embedded specimens were matched with the TGFbeta3 antibody and then scanned with a computerized image analyzer. TGFbeta3 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. Only 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. TGFbeta3 is decreasingly expressed in GL of unaffected CL+/-P and CPO patients and thus further strength is given to a pathogenetic role of TGFbeta3 in the onset of clefts.
ISSN:0165-5876