Toward gene therapy for growth hormone deficiency via salivary gland expression of growth hormone

Oral Dis. 2015 Mar;21(2):149-55. doi: 10.1111/odi.12217. Epub 2014 Jan 13.

Abstract

Objectives: Salivary glands are useful targets for gene therapeutics. After gene transfer into salivary glands, regulated secretory pathway proteins, such as human growth hormone, are secreted into saliva, whereas constitutive secretory pathway proteins, such as erythropoietin, are secreted into the bloodstream. Secretion of human growth hormone (hGH) into the saliva is not therapeutically useful. In this study, we attempted to redirect the secretion of transgenic hGH from the saliva to the serum by site-directed mutagenesis.

Materials and methods: We tested hGH mutants first in vitro with AtT20 cells, a model endocrine cell line that exhibits polarized secretion of regulated secretory pathway proteins. Selected mutants were further studied in vivo using adenoviral-mediated gene transfer to rat submandibular glands.

Results: We identified two mutants with differences in secretion behavior compared to wild-type hGH. One mutant, ΔN1-6 , was detected in the serum of transduced rats, demonstrating that expression of this mutant in the salivary gland resulted in its secretion through the constitutive secretory pathway.

Conclusion: This study demonstrates that mutagenesis of therapeutic proteins normally destined for the regulated secretory pathway may result in their secretion via the constitutive secretory pathway into the circulation for potential therapeutic benefit.

Keywords: cell biology; endocrinology; gene engineering; gene therapy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adenoviridae / genetics
  • Animals
  • Cell Line
  • Erythropoietin / blood
  • Erythropoietin / metabolism
  • Gene Expression
  • Genetic Therapy / methods*
  • Genetic Vectors / genetics
  • Human Growth Hormone / deficiency
  • Human Growth Hormone / genetics*
  • Human Growth Hormone / metabolism*
  • Humans
  • Mutagenesis, Site-Directed / methods
  • Rats
  • Saliva / metabolism
  • Salivary Glands / metabolism*
  • Secretory Pathway / genetics
  • Submandibular Gland / metabolism
  • Transfection
  • Transgenes

Substances

  • Erythropoietin
  • Human Growth Hormone