title: TGF alpha has low protein expression in nonsyndromic clefts.
abstract: Genetic studies have demonstrated that nonsyndromic cleft is composed of two separate entities: the cleft palate only and cleft of the lip, alveolus with or without cleft palate; both have a heterogeneous genetic background and environmental factors contribute to the onset of these malformations. The role of transforming growth factor alpha (TGF-A) was considered possible, but conflicting results have been reported. To detect if TGF-A is involved in the onset of cleft diseases, a series of patients with nonsyndromic clefts and control subjects were analyzed with regard to protein expression. Forty-three patients with nonsyndromic clefts and 21 unaffected subjects were enrolled in this study. Paraffin-embedded specimens were matched with TGF-A antibody and then scanned with a computerized image analyzer. TGF-A was scored as absent, moderately (from 10% to 30%), and highly expressed in epithelium, gland, and muscle. Data were statistically analyzed with a Kruskal-Wallis test. Comparison between control subjects and patients with clefts showed that only gland and epithelium reached a significant P value. A subsequent comparison between cleft of the lip, alveolus with or without cleft palate and cleft palate only groups demonstrated a statistically significant difference only for gland. TGF-A was decreasingly expressed in unaffected, cleft of the lip, alveolus with or without cleft palate, and patient with cleft palate only and thus further strength has been given to its role in the onset of the disease.
authors.affiliation: Department Gynaecology, University of Ferrara, Ferrara.
authors.forename: Rosario
authors.initials: R
authors.lastname: Rullo
authors.forename: Fernando
authors.initials: F
authors.lastname: Gombos
authors.forename: Franca
authors.initials: F
authors.lastname: Ferraraccio
authors.forename: Antonio
authors.initials: A
authors.lastname: Farina
authors.forename: Danila
authors.initials: D
authors.lastname: Morano
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Festa
authors.forename: Daniele
authors.initials: D
authors.lastname: Del Viscovo
authors.forename: Annalisa
authors.initials: A
authors.lastname: Palmieri
authors.forename: Marcella
authors.initials: M
authors.lastname: Martinelli
authors.forename: Luca
authors.initials: L
authors.lastname: Scapoli
authors.forename: Furio
authors.initials: F
authors.lastname: Pezzetti
authors.forename: Francesco
authors.initials: F
authors.lastname: Carinci
mesh_terms: D016022:Case-Control Studies; D002971:Cleft Lip / Q000235:genetics / Q000378:metabolism*; D002972:Cleft Palate / Q000235:genetics / Q000378:metabolism*; D004848:Epithelium / Q000378:metabolism; D005260:Female; D015870:Gene Expression; D006801:Humans; D008297:Male; D009061:Mouth Mucosa / Q000378:metabolism; D009132:Muscles / Q000378:metabolism; D012469:Salivary Glands / Q000378:metabolism; D016211:Transforming Growth Factor alpha / Q000096:biosynthesis* / Q000235:genetics
chemical_list: D016211:Transforming Growth Factor alpha