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Gene expression profiling: can we identify the right target genes?

CORRESPONDENCE: J. E. Loyd, Division of Allergy, Pulmonary and Critical Care, Dept of Medicine, Room T1218, Vanderbilt Medical Center North, Vanderbilt University School of Medicine, 1161 21st Avenue S, Nashville, TN 37232-2650, USA. Fax: 1 6153437448. E-mail: jim.loyd{at}vanderbilt.edu

Gene expression profiling allows the simultaneous monitoring of the transcriptional behaviour of thousands of genes, which may potentially be involved in disease development. Several studies have been performed in idiopathic pulmonary fibrosis (IPF), which aim to define genetic links to the disease in an attempt to improve the current understanding of the underlying pathogenesis of the disease and target pathways for intervention.

Expression profiling has shown a clear difference in gene expression between IPF and normal lung tissue, and has identified a wide range of candidate genes, including those known to encode for proteins involved in extracellular matrix formation and degradation, growth factors and chemokines.

Recently, familial pulmonary fibrosis cohorts have been examined in an attempt to detect specific genetic mutations associated with IPF. To date, these studies have identified families in which IPF is associated with mutations in the gene encoding surfactant protein C, or with mutations in genes encoding components of telomerase.

Although rare and clearly not responsible for the disease in all individuals, the nature of these mutations highlight the importance of the alveolar epithelium in disease pathogenesis and demonstrate the potential for gene expression profiling in helping to advance the current understanding of idiopathic pulmonary fibrosis.

KEYWORDS: Familial, idiopathic pulmonary fibrosis, microarray assays