Related Experiment Video
Updated: Jul 10, 2026
07:26
Isolation of Whole Cell Protein Lysates from Mouse Facial Processes and Cultured Palatal Mesenchyme Cells for Phosphoprotein Analysis
Published on: April 1, 2022
TGF alpha has low protein expression in nonsyndromic clefts
Rosario Rullo1, Fernando Gombos, Franca Ferraraccio
1Department Gynaecology, University of Ferrara, Ferrara.
The Journal of Craniofacial Surgery
|November 13, 2007
Summary
Transforming growth factor alpha (TGF-A) expression differs in nonsyndromic cleft patients. Reduced TGF-A in gland and epithelium suggests its role in cleft palate and lip development.
Area of Science:
- Genetics
- Developmental Biology
- Pathology
Background:
- Nonsyndromic clefts comprise distinct entities: cleft palate only and cleft lip/alveolus with or without cleft palate.
- Both conditions exhibit genetic heterogeneity and environmental influences.
- Previous studies on transforming growth factor alpha (TGF-A) in cleft development yielded conflicting results.
Purpose of the Study:
- To investigate the involvement of TGF-A in the pathogenesis of nonsyndromic clefts.
- To analyze TGF-A protein expression in patients with different types of nonsyndromic clefts and control subjects.
Main Methods:
- Analysis of TGF-A protein expression in tissue specimens from 43 nonsyndromic cleft patients and 21 controls.
- Immunohistochemical staining with TGF-A antibody.
- Quantitative assessment of TGF-A expression in epithelium, gland, and muscle using a computerized image analyzer.
- Statistical analysis using the Kruskal-Wallis test.
Main Results:
- Significant differences in TGF-A expression were observed between control subjects and cleft patients in gland and epithelium.
- A statistically significant difference in gland TGF-A expression was found between cleft lip/alveolus and cleft palate only groups.
- TGF-A expression decreased progressively in unaffected individuals, cleft lip/alveolus patients, and cleft palate only patients.
Conclusions:
- The study provides evidence supporting the role of TGF-A in the etiology of nonsyndromic clefts.
- Differential expression patterns of TGF-A suggest its involvement in the distinct developmental pathways of cleft lip/alveolus and cleft palate only.
Related Concept Videos
01:16TGF - β Signaling Pathway
The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors are of three kinds RI, RII, and RIII. The RI...
01:23Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
01:22Activation and Inactivation of G Proteins
Heterotrimeric G proteins are guanine nucleotide-binding proteins. As the name suggests, heterotrimeric G proteins are composed of three subunits: alpha, beta, and gamma. They remain GDP-bound or GTP-bound inside the cells and switch between inactive/active states. The Gα subunit possesses the nucleotide-binding pocket that binds guanine nucleotides and switches between GDP or GTP-bound states. In contrast, the Gꞵ and Gγ subunits are always bound together with high affinity and are together...
01:30General Transcription Factors
Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
01:05Type IV Collagen of Basal Lamina
Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can exist in...
A type IV collagen molecule has six alpha chains which can exist in...