Rullo Rosario, Gombos Fernando, Ferraraccio Franca, Farina Antonio, Morano Danila, Festa Vincenzo M, Guida Luigi, Martinelli Marcella, Scapoli Luca, Pezzetti Furio, Carinci Francesco
Dental Clinic, Second University of Naples, Via De Crecchio, 80138 Napoli, Italy.
Int J Pediatr Otorhinolaryngol. 2006 Oct;70(10):1759-64. doi: 10.1016/j.ijporl.2006.05.019. Epub 2006 Jul 11.
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.
遗传学研究表明，非综合征性腭裂由两个独立的实体组成——仅腭裂（CPO）和唇裂、牙槽突裂伴或不伴腭裂（CL+/-P），两者均具有异质性遗传背景，环境因素也会导致这些畸形的发生。先前的研究表明，TGFβ3可能与这些疾病有关，但尚未得出确凿结果。
为了检测TGFβ3在腭裂疾病中是否起作用，对一系列非综合征性腭裂患者和对照组进行了TGFβ3蛋白表达分析。
本研究纳入了43例非综合征性腭裂患者和21名未受影响的受试者。将石蜡包埋标本与TGFβ3抗体匹配，然后用计算机图像分析仪进行扫描。发现TGFβ3在上皮（EP）、腭小涎腺（GL）和腭提肌纤维（MU）中表达缺失（低于10%）、中度表达（10%至30%）和高表达（高于30%）。数据采用Kruskal-Wallis检验进行统计学分析。
与未受影响的受试者相比，仅GL和EP在非综合征性腭裂中的表达具有统计学意义的降低。随后对CL+/-P组和CPO组进行比较，结果显示仅GL存在统计学意义的差异，CPO患者的GL表达较低。
在未受影响的CL+/-P和CPO患者的GL中，TGFβ3表达降低，因此进一步证明了TGFβ3在腭裂发病机制中的作用。
