Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1

The near-normalization of constitutive cytokine and matrix release following rescue by HPS1 transduction of HPM cells suggests that HPS-1 HuMCs may contribute to pulmonary fibrosis and constitute a target for therapeutic intervention. Microarray analysis of HPS-1 HuMCs and non-transduced HPM cells confirmed upregulation of differentially expressed genes involved in fibrogenesis and degranulation. Six HPS-1 patients and five healthy controls were studied following informed consent. One typical HPS-1 HuMC culture at 5-6 weeks was eventually overgrown by a population of smaller, rapidly dividing cells. Analysis of differential gene expression from 8 wk old control and HPS-1 HuMCs and HPM cells was performed using cDNA generated from cultured cells.