Endocrine Abstracts

There is a high heterogeneity of human growth hormone (hGH), variation rising from the different genes in pituitary and placenta, alternative splicing, post-translational modifications, oligomerization and binding to the growth hormone binding protein (GHBP). Distinguishing between different variants remains problematic and there is still quite little information about the proportion of these variants in circulation of both healthy individuals and of patients with growth hormo...

Introduction: Two heterozygous missense mutations R77C and D112G have been identified in GH-1 gene of patients with short stature by Takahashi et al. These patients had high serum immunoreactive GH concentrations but low IGF-1 concentrations, indicating bioinactivity of their GH. Separation of GH in patients’ serum by isoelectric focusing revealed the coexistence of mutant and wild type (wt) GH. In order to understand the molecular mechanism of the isolated GH defi...