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Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias

Depts of ¹ Internal Medicine, ² Biochemistry, and, ³ Anaesthesiology, Intensive Care Medicine and Pain Therapy, Faculty of Medicine, University of Giessen Lung Center, Giessen, and Depts of ⁴ Anaesthesiology and Intensive Care Medicine, and ⁵ Gastroenterology, Charité, Campus Virchow-Klinikum, Universitatsmedizin Berlin, Berlin, Germany. ⁶ Authors contributed equally to the study.

CORRESPONDENCE: P. Markart, Dept of Internal Medicine, Faculty of Medicine, University of Giessen Lung Center, Klinikstr. 36, 35392 Giessen, Germany. Fax: 49 6419942509. E-mail: philipp.markart{at}innere.med.uni-giessen.de

Keywords: Genetics, interstitial lung disease, interstitial pneumonia, pulmonary fibrosis, surfactant protein C

Received: March 10, 2006
Accepted September 1, 2006

Interstitial pneumonias have recently been associated with mutations in the gene encoding surfactant protein C (SFTPC). In particular, SFTPC mutations have been reported in a number of familial forms of pulmonary fibrosis and in infants with interstitial lung diseases. The present study searched for SFTPC mutations in adult patients with sporadic idiopathic interstitial pneumonia.

In total, 35 adult patients with sporadic idiopathic interstitial pneumonia and 50 healthy subjects were investigated for SFTPC mutations by direct DNA sequencing. Of the patients with sporadic idiopathic interstitial pneumonia, 25 suffered from idiopathic pulmonary fibrosis and 10 patients from nonspecific interstitial pneumonia.

Only two frequent nonsynonymous variants, T138N and S186N, were detected. Allele frequencies of both variations as well as of other identified noncoding alterations did not differ significantly between the diverse patient groups and control subjects.

In conclusion, mutations in the gene encoding surfactant protein C are not common in sporadic cases of idiopathic pulmonary fibrosis and nonspecific interstitial pneumonia, suggesting that the mutated gene does not play an important role in the pathogenesis of these forms of idiopathic interstitial pneumonia.

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