Sr. Oakes et al., IMMUNOREACTIVE GROWTH-HORMONE RECEPTOR BINDING PROTEIN IS PRESENT ON FIBROBLASTS AND IN SERUM OF LARON-TYPE DWARFS/, Molecular and cellular endocrinology, 99(1), 1994, pp. 125-132
Laron-type dwarfism is an autosomal recessive disorder characterised b
y extreme growth retardation and growth hormone (GH) resistance and ha
s been shown in some cases to be associated with mutations in the GH r
eceptor gene. Limited data suggest that in this condition specific liv
er GH binding is absent. In the majority of reported cases specific GH
binding is also absent in serum. However it is not known whether the
GH receptor and/or the serum GH binding protein are expressed in this
condition. Using the techniques of immunohistochemistry and Northern b
lotting we have demonstrated that in cultured skin fibroblasts derived
from four patients with Laron-type dwarfism the GH receptor gene is t
ranscribed and the GH receptor protein is expressed on the cell surfac
e. Further study of one of these patients, who has not previously been
reported, has also revealed low but detectable levels of GH binding p
rotein in serum using a two-site immunradiometric assay which does not
depend on GH binding. These results indicate that the growth hormone
receptor/binding protein is expressed in Laron-type dwarfism.