Respiratory Medicine
Volume 104, Issue 3 , Pages 418-425 , March 2010

Two novel mutations in surfactant protein-C, lung function and obstructive lung disease

  • Marie Bækvad-Hansen

      Affiliations

    • Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Faculty of Health Sciences, Herlev Ringvej 75, DK 2730 Herlev, Copenhagen, Denmark
    • The Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Faculty of Health Sciences, Copenhagen, Denmark
    • ,
  • Børge G. Nordestgaard

      Affiliations

    • Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Faculty of Health Sciences, Herlev Ringvej 75, DK 2730 Herlev, Copenhagen, Denmark
    • The Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Faculty of Health Sciences, Copenhagen, Denmark
    • The Copenhagen City Heart Study, Bispebjerg Hospital, Copenhagen University Hospital, Faculty of Health Sciences, Copenhagen, Denmark
    • ,
  • Anne Tybjærg-Hansen

      Affiliations

    • The Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Faculty of Health Sciences, Copenhagen, Denmark
    • Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Faculty of Health Sciences, Copenhagen, Denmark
    • The Copenhagen City Heart Study, Bispebjerg Hospital, Copenhagen University Hospital, Faculty of Health Sciences, Copenhagen, Denmark
    • ,
  • Morten Dahl

      Affiliations

    • Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Faculty of Health Sciences, Herlev Ringvej 75, DK 2730 Herlev, Copenhagen, Denmark
    • The Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Faculty of Health Sciences, Copenhagen, Denmark
    • Corresponding Author InformationCorresponding author. Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Faculty of Health Sciences, Herlev Ringvej 75, DK 2730 Herlev, Copenhagen, Denmark. Tel.: +45 4488 3846; fax: +45 4488 3311.

Received 19 May 2009 ,Accepted 18 October 2009.

References 

  1. Andreeva AV, Kutuzov MA, Voyno-Yasenetskaya TA. Regulation of surfactant secretion in alveolar type II cells. Am J Physiol Lung Cell Mol Physiol. 2007;293:L259–L271
  2. Dietl P, Haller T. Exocytosis of lung surfactant: from the secretory vesicle to the air-liquid interface. Annu Rev Physiol. 2005;67:595–621
  3. Weaver TE, Conkright JJ. Function of surfactant proteins B and C. Annu Rev Physiol. 2001;63:555–578
  4. Hamvas A, Cole FS, Nogee LM. Genetic disorders of surfactant proteins. Neonatology. 2007;91:311–317
  5. Mulugeta S, Beers MF. Surfactant protein C: its unique properties and emerging immunomodulatory role in the lung. Microbes Infect. 2006;8:2317–2323
  6. Klenz U, Saleem M, Meyer MC, Galla HJ. Influence of lipid saturation grade and headgroup charge: a refined lung surfactant adsorption model. Biophys J. 2008;95:699–709
  7. Bourdos N, Kollmer F, Benninghoven A, Ross M, Sieber M, Galla HJ. Analysis of lung surfactant model systems with time-of-flight secondary ion mass spectrometry. Biophys J. 2000;79:357–369
  8. Glasser SW, Senft AP, Whitsett JA, Maxfield MD, Ross GF, Richardson TR, et al. Macrophage dysfunction and susceptibility to pulmonary Pseudomonas aeruginosa infection in surfactant protein C-deficient mice. J Immunol. 2008;181:621–628
  9. Bridges JP, Xu Y, Na CL, Wong HR, Weaver TE. Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C. J Cell Biol. 2006;172:395–407
  10. Glasser SW, Detmer EA, Ikegami M, Na CL, Stahlman MT, Whitsett JA. Pneumonitis and emphysema in sp-C gene targeted mice. J Biol Chem. 2003;278:14291–14298
  11. Nogee LM, Dunbar AE, Wert SE, Askin F, Hamvas A, Whitsett JA. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med. 2001;344:573–579
  12. Thomas AQ, Lane K, Phillips J, Prince M, Markin C, Speer M, et al. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med. 2002;165:1322–1328
  13. Nogee LM, Dunbar AE, Wert S, Askin F, Hamvas A, Whitsett JA. Mutations in the surfactant protein C gene associated with interstitial lung disease. Chest. 2002;121:20S–21S
  14. Hamvas A, Nogee LM, White FV, Schuler P, Hackett BP, Huddleston CB, et al. Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. Am J Respir Cell Mol Biol. 2004;30:771–776
  15. Brasch F, Griese M, Tredano M, Johnen G, Ochs M, Rieger C, et al. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. Eur Respir J. 2004;24:30–39
  16. Tredano M, Griese M, Brasch F, Schumacher S, de BJ, Marque S, et al. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. Am J Med Genet A. 2004;126:18–26
  17. Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, et al. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr. 2005;146:370–375
  18. Stevens PA, Pettenazzo A, Brasch F, Mulugeta S, Baritussio A, Ochs M, et al. Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. Pediatr Res. 2005;57:89–98
  19. Soraisham AS, Tierney AJ, Amin HJ. Neonatal respiratory failure associated with mutation in the surfactant protein C gene. J Perinatol. 2006;26:67–70
  20. Markart P, Ruppert C, Wygrecka M, Schmidt R, Korfei M, Harbach H, et al. Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias. Eur Respir J. 2007;29:134–137
  21. Dahl M, Vestbo J, Lange P, Bojesen SE, Tybjaerg-Hansen A, Nordestgaard BG. C-reactive protein as a predictor of prognosis in chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2007;175:250–255
  22. Dahl M, Bowler RP, Juul K, Crapo JD, Levy S, Nordestgaard BG. Superoxide dismutase 3 polymorphism associated with reduced lung function in two large populations. Am J Respir Crit Care Med. 2008;178:906–912
  23. Mulugeta S, Nguyen V, Russo SJ, Muniswamy M, Beers MF. A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation. Am J Respir Cell Mol Biol. 2005;32:521–530
  24. Ten BA, Batenburg JJ, Haagsman HP, van Golde LM, Vaandrager AB. Differential effect of brefeldin A on the palmitoylation of surfactant protein C proprotein mutants. Biochem Biophys Res Commun. 2002;290:532–538
  25. Johansson J, Weaver TE, Tjernberg LO. Proteolytic generation and aggregation of peptides from transmembrane regions: lung surfactant protein C and amyloid beta-peptide. Cell Mol Life Sci. 2004;61:326–335
  26. Conkright JJ, Bridges JP, Na CL, Voorhout WF, Trapnell B, Glasser SW, et al. Secretion of surfactant protein C, an integral membrane protein, requires the N-terminal propeptide. J Biol Chem. 2001;276:14658–14664
  27. Wang WJ, Mulugeta S, Russo SJ, Beers MF. Deletion of exon 4 from human surfactant protein C results in aggresome formation and generation of a dominant negative. J Cell Sci. 2003;116:683–692
  28. Kabore AF, Wang WJ, Russo SJ, Beers MF. Biosynthesis of surfactant protein C: characterization of aggresome formation by EGFP chimeras containing propeptide mutants lacking conserved cysteine residues. J Cell Sci. 2001;114:293–302
  29. Erpenbeck VJ, Schmidt R, Gunther A, Krug N, Hohlfeld JM. Surfactant protein levels in bronchoalveolar challenge in patients with asthma. Allergy. 2006;61:598–604
  30. Lawson WE, Grant SW, Ambrosini V, Womble KE, Dawson EP, Lane KB, et al. Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF. Thorax. 2004;59:977–980
  31. Lahti M, Marttila R, Hallman M. Surfactant protein C gene variation in the Finnish population - association with perinatal respiratory disease. Eur J Hum Genet. 2004;12:312–320

PII: S0954-6111(09)00345-X

doi: 10.1016/j.rmed.2009.10.012

Respiratory Medicine
Volume 104, Issue 3 , Pages 418-425 , March 2010

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