Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice

Patients with hypohidrotic ectodermal dysplasia (HED) and Tabby (Ta) mice lack sweat glands and there is compelling evidence that these phenotypes are caused by mutations in the same highly conserved but unidentified X-linked gene. Previous studies showed that exogenous epidermal growth factor (EGF)...

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Bibliographic Details
Published in:The Journal of clinical investigation 1996-06, Vol.97 (11), p.2426-2432
Main Authors: Vargas, G A, Fantino, E, George-Nascimento, C, Gargus, J J, Haigler, H T
Format: Article
Language:English
Subjects:
Animals
Cell Membrane - metabolism
Cells, Cultured
Child
Child, Preschool
Ectodermal Dysplasia - genetics
Ectodermal Dysplasia - metabolism
Epidermal Growth Factor - metabolism
Epidermal Growth Factor - pharmacology
Female
Fibroblasts - metabolism
Humans
Hypohidrosis - genetics
Hypohidrosis - metabolism
Liver - metabolism
Male
Mice
Mice, Mutant Strains
Phenotype
Protein-Tyrosine Kinases - metabolism
Receptor, Epidermal Growth Factor - biosynthesis
Receptor, Epidermal Growth Factor - genetics
Reference Values
Skin - metabolism
X Chromosome
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Summary:Patients with hypohidrotic ectodermal dysplasia (HED) and Tabby (Ta) mice lack sweat glands and there is compelling evidence that these phenotypes are caused by mutations in the same highly conserved but unidentified X-linked gene. Previous studies showed that exogenous epidermal growth factor (EGF) reversed the Ta phenotype but the EGF status in HED patients has not been studied at all. Studies reported herein investigated the hypothesis that the EGF signaling pathway is involved in HED/Ta. Fibroblasts from HED patients had a two- to eightfold decrease in binding capacity for (125)I-labeled EGF, a decreased expression of the immunoreactive 170-kD EGF receptor (EGFR) protein, and a corresponding reduction in EGFR mRNA. Reduced expression of the EGFR also was observed in Ta fibroblasts and liver membranes. Other aspects of the EGF signaling pathway, including EGF concentration in urine and plasma, were normal in both HED patients and Ta mice. We propose that a decreased expression of the EGFR plays a causal role in the HED/Ta phenotype.
ISSN:0021-9738
DOI:10.1172/JCI118689