Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias

¹ Depts of Internal Medicine
² Biochemistry and
³ Anaesthesiology, Intensive Care Medicine and Pain Therapy, Faculty of Medicine, University of Giessen Lung Center
⁴ Depts of Anaesthesiology and Intensive Care Medicine and
⁵ Gastroenterology, Charité, Campus Virchow-Klinikum, Universitatsmedizin Berlin, Germany

^* To whom correspondence should be addressed. E-mail: philipp.markart{at}innere.med.uni-giessen.de.

	Abstract

Interstitial pneumonias have been recently 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. In the present study, we searched for SFTPC mutations in adult patients with sporadic idiopathic interstitial pneumonia.

Thirty-five adult patients with sporadic idiopathic interstitial pneumonia and 50 healthy subjects were investigated for SFTPC mutations by direct DNA sequencing. Twenty-five patients suffered from idiopathic pulmonary fibrosis (IPF) and 10 patients from nonspecific interstitial pneumonia (NSIP).

We detected only two frequent non synonymous variants, T138N and S186N. Allele frequencies of both variations as well as of other identified non coding alterations did not differ significantly between the diverse patient groups and control subjects.

We conclude that SFTPC mutations are not common in sporadic cases of IPF and NSIP, suggesting that mutated SFTPC does not play an important role in the pathogenesis of these forms of idiopathic interstitial pneumonia.

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