Abstract
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.
Published by Elsevier Inc.
Publication types
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Research Support, N.I.H., Intramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Cells, Cultured
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Gene Expression
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Genetic Therapy*
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Genetic Vectors
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Guanine Nucleotide Exchange Factors
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Hermanski-Pudlak Syndrome / metabolism
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Hermanski-Pudlak Syndrome / therapy*
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Humans
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Lentivirus / genetics
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Melanocytes / metabolism*
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Melanocytes / ultrastructure
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Membrane Glycoproteins / metabolism
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Membrane Proteins / genetics*
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Membrane Proteins / metabolism
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Mutation
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Oxidoreductases / metabolism
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Proteins / genetics
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Proteins / metabolism
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Transduction, Genetic
Substances
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Guanine Nucleotide Exchange Factors
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HPS1 protein, human
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HPS4 protein, human
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Membrane Glycoproteins
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Membrane Proteins
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Proteins
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Oxidoreductases
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TYRP1 protein, human