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Hamvas, A. et al.

Hamvas, Nogee, White, Schuler, Hackett, Huddleston, Mendeloff, Hsu, Wert, Gonzales, Beers, Ballard,

Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene.

Mutations in the surfactant protein (SP)-C gene are responsible for familial and sporadic interstitial lung disease (ILD). The consequences of such mutations on pulmonary surfactant composition and function are poorly understood. To determine the effects of a mutation in the SP-C gene on surfactant, we obtained lung tissue at the time of transplantation from a 14-mo-old infant with progressive ILD. An in-frame 9-bp deletion spanning codons 91-93 in Exon 3 of the SP-C gene was present on one allele; neither parent carried this deletion. SP-C mRNA was present in normal size and amount. By immunofluorescence, proSP-C was aggregated within alveolar Type II cells in a compartment separate from SP-B. In airway surfactant, there was little or no mature SP-B or SP-C; SP-A content was increased. Minimum surface tension was increased (20 mN/m, normal < 5 mN/m). Type II cells contained normal and disorganized appearing lamellar bodies by electron microscopy. This spontaneous deletion on one allele of the SP-C gene was associated with sporadic ILD and abnormalities in surfactant composition and function. We propose that a dominant negative effect on surfactant protein metabolism and function results from aggregation of misfolded proSP-C and subsequent cell injury and inflammation.[1]

References

Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. Hamvas, A., Nogee, L.M., White, F.V., Schuler, P., Hackett, B.P., Huddleston, C.B., Mendeloff, E.N., Hsu, F.F., Wert, S.E., Gonzales, L.W., Beers, M.F., Ballard, P.L. Am. J. Respir. Cell Mol. Biol. (2004) [Pubmed]

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