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Truncated growth hormone receptor isoforms.

R J Ross1

  • 1Division of Clinical Sciences, University of Sheffield, Northern General Hospital, UK.

Acta Paediatrica (Oslo, Norway : 1992). Supplement
|April 2, 1999
PubMed
Summary
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Truncated growth hormone receptors (GHR) inhibit GH signaling and produce GH binding protein (GHBP). Mutations causing high truncated GHR levels are linked to short stature and GH insensitivity.

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Truncated forms of the growth hormone receptor (GHR) lacking the cytoplasmic domain exist in human tissues.
  • These truncated receptors can interfere with normal growth hormone (GH) signaling pathways.

Purpose of the Study:

  • To investigate the functional role of truncated GHRs in GH signaling.
  • To understand the implications of truncated GHRs in human conditions like short stature.

Main Methods:

  • In vitro studies to assess the inhibitory effects of truncated GHRs on GH signaling.
  • Analysis of mutations associated with high truncated GHR expression and their clinical outcomes.

Main Results:

  • Truncated GHRs act as dominant-negative inhibitors of the GH signal in vitro.

Related Experiment Videos

  • High expression of truncated GHRs is associated with short stature and GH insensitivity.
  • Truncated GHRs generate significant amounts of growth hormone binding protein (GHBP).

    • Conclusions:

    • Truncated GHRs play a significant role in regulating GH signaling.
    • These receptors are implicated in the pathophysiology of GH insensitivity and short stature.
    • Truncated GHRs represent a key mechanism for GHBP production.