In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer

Mol Genet Metab. 2015 Jan;114(1):62-5. doi: 10.1016/j.ymgme.2014.11.006. Epub 2014 Nov 12.


Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available. Genetic correction directed to the lungs, bone marrow and/or gastro-intestinal tract might provide alternative forms of treatment for the diseases multi-systemic complications. We demonstrate that lentiviral-mediated gene transfer corrects the expression and function of the HPS1 gene in patient dermal melanocytes, which opens the way to development of gene therapy for HPS.

Keywords: Gene therapy; Hermansky–Pudlak syndrome; Lentivirus; Melanocytes; Pulmonary fibrosis.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cells, Cultured
  • Gene Expression
  • Genetic Therapy*
  • Genetic Vectors
  • Guanine Nucleotide Exchange Factors
  • Hermanski-Pudlak Syndrome / metabolism
  • Hermanski-Pudlak Syndrome / therapy*
  • Humans
  • Lentivirus / genetics
  • Melanocytes / metabolism*
  • Melanocytes / ultrastructure
  • Membrane Glycoproteins / metabolism
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mutation
  • Oxidoreductases / metabolism
  • Proteins / genetics
  • Proteins / metabolism
  • Transduction, Genetic


  • Guanine Nucleotide Exchange Factors
  • HPS1 protein, human
  • HPS4 protein, human
  • Membrane Glycoproteins
  • Membrane Proteins
  • Proteins
  • Oxidoreductases
  • TYRP1 protein, human