The genetics of neonatal respiratory disease

Seminars in Fetal and Neonatal Medicine

Volumn 10, Issue 3, 2005, Pages 271-282

  Clark, Howard ^a,b   Clark, Lucy Side ^c  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

ABCA3; Alveolar proteinosis; Bronchopulmonary dysplasia; Cystic fibrosis (CF) screening; Primary ciliary dyskinesia (PCD); Respiratory distress syndrome (RDS); SP A; SP B; SP C; SP D; Surfactant proteins; Transient tachypnoea of the newborn (TTN)

Indexed keywords

SURFACTANT PROTEIN A; SURFACTANT PROTEIN B; SURFACTANT PROTEIN C; SURFACTANT PROTEIN D;

CILIARY DYSKINESIA; CYSTIC FIBROSIS; DISEASE SEVERITY; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; HEREDITY; HUMAN; LUNG ALVEOLUS PROTEINOSIS; LUNG DYSPLASIA; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; NEWBORN MONITORING; OLIGOMERIZATION; REVIEW; RISK ASSESSMENT; TACHYPNEA;

ATP-BINDING CASSETTE TRANSPORTERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; POLYMORPHISM, GENETIC; PULMONARY ALVEOLAR PROTEINOSIS; PULMONARY SURFACTANT-ASSOCIATED PROTEINS; RESPIRATORY TRACT DISEASES; SEVERITY OF ILLNESS INDEX;

EID: 20144377370     PISSN: 1744165X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.siny.2005.02.004     Document Type: Review

References (83)

1. M.J. Khoury, J.S. Marks, B.J. McCarthy, and S.M. Zaro Factors affecting the sex differential in neonatal mortality: the role of respiratory distress syndrome Am J Obstet Gynecol 151 1985 777 782
2. T.C. Hulsey, G.R. Alexander, P.Y. Robillard, D.J. Annibale, and A. Keenan Hyaline membrane disease: the role of ethnicity and maternal risk characteristics Am J Obstet Gynecol 168 1993 572 576
3. C. Dani, M.F. Reali, and G. Bertini Risk factors for the development of respiratory distress syndrome and transient tachypnoea in newborn infants. Italian Group of Neonatal Pneumology Eur Respir J 14 1999 155 159
4. L. van Sonderen, E.F. Halsema, E.J. Spiering, and J.G. Koppe Genetic influences in respiratory distress syndrome: a twin study Semin Perinatol 26 2002 447 449
5. Y. Suzuki, Y. Fujita, and K. Kogishi Reconstitution of tubular myelin from synthetic lipids and proteins associated with pig pulmonary surfactant Am Rev Respir Dis 140 1989 75 81
6. L.G. Dobbs, J.R. Wright, S. Hawgood, R. Gonzalez, K. Venstrom, and J. Nellenbogen Pulmonary surfactant and its components inhibit secretion of phosphatidylcholine from cultured rat alveolar type II cells Proc Natl Acad Sci USA 84 1987 1010 1014
7. S. Schürch, H. Bachofen, J. Goerke, and F. Green Surface properties of rat pulmonary surfactant studied with the captive bubble method: adsorption, hysteresis, stability Biochim Biophys Acta 1103 1992 127 136
8. J. Chung, S-H. Yu, J.A. Whitsett, P.G.R. Harding, and F. Possmayer Effect of surfactant-associated protein-A (SP-A) on the activity of lipid extract surfactant Biochim Biophys Acta 1002 1989 348 358
9. H.W. Clark, K.B. Reid, and R.B. Sim Collectins and innate immunity in the lung Microbes Infect 88 2000 273 278
10. M. Hallman, T.A. Merritt, T. Akino, and K. Bry Surfactant protein A, phosphatidylcholine, and surfactant inhibitors in epithelial lining fluid. Correlation with surface activity, severity of respiratory distress syndrome, and outcome in small premature infants Am Rev Respir Dis 144 1991 1376 1384
11. T. Voss, H. Eistetter, K.P. Schafer, and J. Engel Macromolecular organization of natural and recombinant lung surfactant protein SP 28-36. Structural homology with the complement factor C1q J Mol Biol 201 1988 219 227
12. T. Spissinger, K.P. Schafer, and T. Voss Assembly of the surfactant protein SP-A. Deletions in the globular domain interfere with the correct folding of the molecule Eur J Biochem 199 1991 65 71
13. S. Hawgood Pulmonary surfactant apoproteins: a review of protein and genomic structure Am J Physiol 257 1989 L13 L22
14. M.W. Turner, and R.M. Hamvas Mannose-binding lectin: structure, function, genetics and disease associations Rev Immunogenet 2 2000 305 322
15. A.M. Cockshutt, J. Weitz, and F. Possmayer Pulmonary surfactant- associated protein A enhances the surface activity of lipid extract surfactant and reverses inhibition by blood proteins in vitro Biochemistry 29 1990 8425 8429
16. K. Yukitake, C.L. Brown, M.A. Schlueter, J.A. Clements, and S. Hawgood Surfactant apoprotein A modifies the inhibitory effect of plasma proteins on surfactant activity in vivo Pediatr Res 37 1995 21 25
17. S. Pattanajitvilai, Y. Kuroki, W. Tsunezawa, F.X. McCormack, and D.R. Voelker Mutational analysis of Arg197 of rat surfactant protein A. His197 creates specific lipid uptake defects J Biol Chem 273 1998 5702 5707
18. T.R. Korfhagen, M.D. Bruno, and G.F. Ross Altered surfactant function and structure in SP-A gene targeted mice Proc Natl Acad Sci USA 93 1996 9594 9599
19. M. Ikegami, T.R. Korfhagen, and J.A. Whitsett Characteristics of surfactant from SP-A-deficient mice Am J Physiol 275 2 Pt 1 1998 L247 L254
20. S.H. Yu, and F. Possmayer Role of bovine pulmonary surfactant-associated proteins in the surface-active property of phospholipid mixtures Biochim Biophys Acta 1046 1990 233 241
21. R. Marttila, R. Haataja, M. Ramet, M.L. Pokela, O. Tammela, and M. Hallman Surfactant protein A gene locus and respiratory distress syndrome in Finnish premature twin pairs Ann Med 35 2003 344 352
22. J.C. Condon, P. Jeyasuria, J.M. Faust, and C.R. Mendelson Surfactant protein secreted by the maturing mouse fetal lung acts as a hormone that signals the initiation of parturition Proc Natl Acad Sci USA 101 2004 4978 4983
23. R. Marttila, R. Haataja, M. Ramet, J. Lofgren, and M. Hallman Surfactant protein B polymorphism and respiratory distress syndrome in premature twins Hum Genet 112 2003 18 23
24. R. Marttila, R. Haataja, S. Guttentag, and M. Hallman Surfactant protein A and B genetic variants in respiratory distress syndrome in singletons and twins Am J Respir Crit Care Med 168 2003 1216 1222
25. B. Weber, A. Borkhardt, S. Stoll-Becker, I. Reiss, and L. Gortner Polymorphisms of surfactant protein A genes and the risk of bronchopulmonary dysplasia in preterm infants Turk J Pediatr 42 2000 181 185
26. A.M. LeVine, J. Gwozdz, J. Stark, M. Bruno, J. Whitsett, and T. Korfhagen Surfactant protein-A enhances respiratory syncytial virus clearance in vivo J Clin Invest 103 1999 1015 1021
27. T.R. Korfhagen, A.M. LeVine, and J.A. Whitsett Surfactant protein A (SP-A) gene targeted mice Biochim Biophys Acta 1408 1998 296 302
28. A.M. LeVine, M.D. Bruno, K.M. Huelsman, G.F. Ross, J.A. Whitsett, and T.R. Korfhagen Surfactant protein A-deficient mice are susceptible to group B streptococcal infection J Immunol 158 1997 4336 4340
29. L.M. Scavo, R. Ertsey, and B.Q. Gao Human surfactant proteins A1 and A2 are differentially regulated during development and by soluble factors Am J Physiol 275 4 Pt 1 1998 L653 L669
30. G. Grossmann, R. Nilsson, and B. Robertson Scanning electron microscopy of epithelial lesions induced by artificial ventilation of the immature neonatal lung; the prophylactic effect of surfactant replacement Eur J Pediatr 145 1986 361 367
31. S.D. Revak, T.A. Merritt, and E. Degryse Use of human surfactant low molecular weight apoproteins in the reconstitution of surfactant biologic activity J Clin Invest 81 1988 826 833
32. T. Curstedt, H. Jornvall, B. Robertson, T. Bergman, and P. Berggren Two hydrophobic low-molecular-mass protein fractions of pulmonary surfactant. Characterization and biophysical activity Eur J Biochem 168 1987 255 262
33. A. Jobe, and M. Ikegami Surfactant for the treatment of respiratory distress syndrome Am Rev Respir Dis 136 1987 1256 1275
34. J. Floros, S.V. Veletza, and P. Kotikalapudi Dinucleotide repeats in the human surfactant protein-B gene and respiratory-distress syndrome Biochem J 305 Pt 2 1995 583 590
35. P. Kala, T. Ten Have, H. Nielsen, M. Dunn, and J. Floros Association of pulmonary surfactant protein A (SP-A) gene and respiratory distress syndrome: interaction with SP-B Pediatr Res 43 1998 169 177
36. S.V. Veletza, P.K. Rogan, T. TenHave, S.A. Olowe, and J. Floros Racial differences in allelic distribution at the human pulmonary surfactant protein B gene locus (SP-B) Exp Lung Res 22 1996 489 494
37. L.M. Nogee Genetic mechanisms of surfactant deficiency Biol Neonate 85 2004 314 318
38. Z. Lin, C. Pearson, and V. Chinchilli Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS Clin Genet 58 2000 181 191
39. L.M. Nogee, D.E. de Mello, L.P. Dehner, and H.R. Colten Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis N Engl J Med 328 1993 406 410
40. J. Johansson, T. Curstedt, and B. Robertson The proteins of the surfactant system Eur Respir J 7 1994 372 391
41. J.C. Clark, S.E. Wert, and C.J. Bachurski Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice Proc Natl Acad Sci USA 92 1995 7794 7798
42. L.M. Nogee Alterations in SP-B and SP-C expression in neonatal lung disease Annu Rev Physiol 66 2004 601 623
43. J. Johansson, and T. Curstedt Molecular structures and interactions of pulmonary surfactant components Eur J Biochem 244 1997 675 693
44. Glasser SW, Korfhagen TR, Perme CM, TJP-M, Kister SE, Whitsett JA. Two SP-C genes encoding human pulmonary surfactant proteolipid. J Biol Chem 1988;263:10326-31.
45. L.M. Nogee, G. Garnier, and H.C. Dietz A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds J Clin Invest 93 1994 1860 1863
46. D.K. Vorbroker, S.A. Profitt, L.M. Nogee, and J.A. Whitsett Aberrant processing of surfactant protein C in hereditary SP-B deficiency Am J Physiol 268 4 Pt 1 1995 L647 L656
47. F. Danlois, S. Zaltash, and J. Johansson Very low surfactant protein C contents in newborn Belgian White and Blue calves with respiratory distress syndrome Biochem J 351 Pt 3 2000 779 787
48. M. Lahti, R. Marttila, and M. Hallman Surfactant protein C gene variation in the Finnish population - association with perinatal respiratory disease Eur J Hum Genet 12 2004 312 320
49. D. Hatzis, G. Deiter, D.E. deMello, and J. Floros Human surfactant protein-C: genetic homogeneity and expression in RDS; comparison with other species Exp Lung Res 20 1994 57 72
50. L.M. Nogee, A.E. Dunbar 3rd, S.E. Wert, F. Askin, A. Hamvas, and J.A. Whitsett A mutation in the surfactant protein C gene associated with familial interstitial lung disease N Engl J Med 344 2001 573 579
51. W.J. Wang, S. Mulugeta, S.J. Russo, and M.F. Beers Deletion of exon 4 from human surfactant protein C results in aggresome formation and generation of a dominant negative J Cell Sci 116 Pt 4 2003 683 692
52. H. Clark, and K. Reid The potential of recombinant surfactant protein D therapy to reduce inflammation in neonatal chronic lung disease, cystic fibrosis, and emphysema Arch Dis Child 88 2003 981 984
53. M. Beresford, and N. Shaw Bronchoalveolar lavage surfactant protein A, B, and D concentrations in preterm infants ventilated for respiratory distress syndrome receiving natural and synthetic surfactants Pediatr Res 53 2003 663 670
54. X. Guo, H.M. Lin, and Z. Lin Surfactant protein gene A, B, and D marker alleles in chronic obstructive pulmonary disease of a Mexican population Eur Respir J 18 2001 482 490
55. M. Lahti, J. Lofgren, and R. Marttila Surfactant protein D gene polymorphism associated with severe respiratory syncytial virus infection Pediatr Res 51 2002 696 699
56. R. Haataja, R. Marttila, P. Uimari, J. Lofgren, M. Ramet, and M. Hallman Respiratory distress syndrome: evaluation of genetic susceptibility and protection by transmission disequilibrium test Hum Genet 109 2001 351 355
57. J. Lofgren, M. Ramet, M. Renko, R. Marttila, and M. Hallman Association between surfactant protein A gene locus and severe respiratory syncytial virus infection in infants J Infect Dis 185 2002 283 289
58. P. Garred, T. Pressler, and H.O. Madsen Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis J Clin Invest 104 1999 431 437
59. U. Dirksen, R. Nishinakamura, and P. Groneck Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression J Clin Invest 100 1997 2211 2217
60. T. Kitamura, N. Tanaka, and J. Watanabe Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor J Exp Med 190 1999 875 880
61. S. Shulenin, L.M. Nogee, T. Annilo, S.E. Wert, J.A. Whitsett, and M. Dean ABCA3 gene mutations in newborns with fatal surfactant deficiency N Engl J Med 350 2004 1296 1303
62. Y. Berthiaume, H.G. Folkesson, and M.A. Matthay Lung edema clearance: 20 years of progress: invited review: alveolar edema fluid clearance in the injured lung J Appl Physiol 93 2002 2207 2213
63. Y. Wang, H.G. Folkesson, C. Jayr, L.B. Ware, and M.A. Matthay Alveolar epithelial fluid transport can be simultaneously upregulated by both KGF and beta-agonist therapy J Appl Physiol 87 1999 1852 1860
64. H.G. Folkesson, J.F. Pittet, G. Nitenberg, and M.A. Matthay Transforming growth factor-alpha increases alveolar liquid clearance in anesthetized ventilated rats Am J Physiol 271 2 Pt 1 1996 L236 L244
65. Y. Song, S. Jayaraman, B. Yang, M.A. Matthay, and A.S. Verkman Role of aquaporin water channels in airway fluid transport, humidification, and surface liquid hydration J Gen Physiol 117 2001 573 582
66. E. Tutdibi, B. Hospes, and E. Landmann Transient tachypnea of the newborn (TTN): a role for polymorphisms of surfactant protein B (SP-B) encoding gene? Klin Padiatr 21 2003 248 252
67. M. Welsh, B. Ramsey, F.J. Accurso, and G. Cutting Cystic fibrosis C. Scriver A. Beaudet W. Sly D. Valle The Metabolic and Molecular Basis of Inherited Disease 2001 McGraw Hill New York 5121 5188
68. Database TCFM. The Cystic Fibrosis Mutation Database.
69. E.F. McKone, S.S. Emerson, K.L. Edwards, and M.L. Aitken Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study Lancet 361 2003 1671 1676
70. M. Chillon, T. Casals, and B. Mercier Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens N Engl J Med 332 1995 1475 1480
71. J. Zielenski, and L.C. Tsui Cystic fibrosis: genotypic and phenotypic variations Annu Rev Genet 29 1995 777 807
72. P.M. Farrell, M.R. Kosorok, and A. Laxova Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group N Engl J Med 337 1997 963 969
73. N.J. Wald, and J.K. Morris Neonatal screening for cystic fibrosis Br Med J 316 1998 404 405
74. E.P. Parsons, A.J. Clarke, and D.M. Bradley Implications of carrier identification in newborn screening for cystic fibrosis Arch Dis Child Fetal Neonatal Ed 88 2003 F467 F471
75. M. Meeks, and A. Bush Primary ciliary dyskinesia (PCD) Pediatr Pulmonol 29 2000 307 316
76. A. Bush, and C. O'Callaghan Primary ciliary dyskinesia Arch Dis Child 87 2002 363 365 (discussion 363-365)
77. D. Holzmann, and H. Felix Neonatal respiratory distress syndrome - a sign of primary ciliary dyskinesia? Eur J Pediatr 159 2000 857 860
78. J. McGrath, and M. Brueckner Cilia are at the heart of vertebrate left-right asymmetry Curr Opin Genet Dev 13 2003 385 392
79. H. Olbrich, K. Haffner, and A. Kispert Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry Nat Genet 30 2002 143 144
80. C. Guichard, M.C. Harricane, and J.J. Lafitte Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome) Am J Hum Genet 68 2001 1030 1035
81. L. Bartoloni, J.L. Blouin, and Y. Pan Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia Proc Natl Acad Sci USA 99 2002 10282 10286
82. M. Meeks, A. Walne, and S. Spiden A locus for primary ciliary dyskinesia maps to chromosome 19q J Med Genet 37 2000 241 244
83. I. Zito, S.M. Downes, and R.J. Patel RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections J Med Genet 40 2003 609 615