Diffuse lung disease in children: Summary of a scientific conference

Pediatric Pulmonology

Volumn 49, Issue 4, 2014, Pages 400-409

  Hamvas, Aaron ^a   Deterding, Robin ^b   Balch, William E ^c   Schwartz, David A ^b   Albertine, Kurt H ^d   Whitsett, Jeffrey A ^e   Cardoso, Wellington V ^f   Kotton, Darrell N ^f   Kourembanas, Stella ^g   Hagood, James S ^h  

^a ST LOUIS CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^e CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^f BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

childhood interstitial lung disease; diffuse lung disease; epigenetics; genetics; stem cell

Indexed keywords

CONNECTIVE TISSUE GROWTH FACTOR; DNA; GROWTH FACTOR; HISTONE; INTERLEUKIN 13; INTERLEUKIN 1BETA; SURFACTANT; TRANSFORMING GROWTH FACTOR ALPHA; TRANSFORMING GROWTH FACTOR BETA; LUNG SURFACTANT;

AIRWAY REMODELING; ARTICLE; ARTIFICIAL VENTILATION; CELL FATE; CHILDHOOD DISEASE; CHRONIC OBSTRUCTIVE LUNG DISEASE; DIFFUSE LUNG DISEASE; DNA METHYLATION; EPIGENETICS; GENETIC ASSOCIATION; HUMAN; INTERSTITIAL LUNG DISEASE; LUNG DISEASE; LUNG INJURY; LUNG LAVAGE; NONHUMAN; PATHOGENESIS; PATHOPHYSIOLOGY; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; PROTEOMICS; REGENERATIVE MEDICINE; RESPIRATORY EPITHELIUM; STEM CELL; STEM CELL TRANSPLANTATION; TRANSGENIC MOUSE; ANIMAL; CHILD; DISEASE MODEL; GENETICS; LUNG DISEASES, INTERSTITIAL; METABOLISM; ORGANIZATION;

ANIMALS; CHILD; CONGRESSES AS TOPIC; DISEASE MODELS, ANIMAL; DNA METHYLATION; HUMANS; LUNG DISEASES, INTERSTITIAL; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; PULMONARY SURFACTANTS; STEM CELL TRANSPLANTATION;

EID: 84896400706     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.22805     Document Type: Article

References (56)

1. Garmany T, Moxley MA, White FV, Dean M, Nogee LM, Hamvas A,. Surfactant composition and function in patients with ABCA3 mutations. Pediatr Res 2006; 59: 801-805.
2. Guillot L, Carre A, Szinnai G, Castanet M, Tron E, Jaubert F, Broutin I, Counil F, Feldmann D, Clement A, Polak M, Epaud R,. NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome ". Hum Mutat 2010; 31: E1146-E1162.
3. Nogee L, Wert SE, Proffit SA, Hull WM, Whitsett JA,. Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency. Am J Respir Crit Care Med 2000; 161: 973-981.
4. Nogee L, Dunbar AE III, 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.
5. Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M,. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 2004; 350: 1296-1303.
6. Brasch F, Griese M, Tredano M, Johnen G, Ochjs M, Rieger C, Mulugeta S, Muller KM, Bahuau M, Beers MF,. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. Eur Respir J 2004; 24: 30-39.
7. Bullard J, Wert SE, Whitsett JA, Dean M, Nogee LM,. ABCA3 mutations associated with pediatric interstitial lung disease. Am J Resp Crit Care Med 2005; 172: 1026-1031.
8. Cameron H, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, Deutsch G, Nogee LM,. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr 2005; 146: 370-375.
9. Krude H, Schutz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tonnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Gruters A,. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-haploinsufficiency. J Clin Invest 2002; 109: 475-480.
10. Hamvas A, Trusgnich M, Brice H, Baumgartner J, Hong Y, Nogee LM, Cole FS,. Population-based screening for rare mutations: high throughput DNA extraction and amplification from Guthrie cards. Pediatr Res 2001; 50: 666-668.
11. Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, Roudot-Thoraval F, Boelle PY, Elion J, Jeanpierre M, Feingold J, couderc R, Bahuau M,. Origin of the prevalent SFTPB indel g.1549C>GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency. Am J Med Genet A 2006; 140: 62-69.
12. Garmany TH, Wambach JA, Heins HB, Watkins-Torry J, Wegner DJ, Bennet K, An P, Land G, Saugstad OD, Henderson H, Nogee LM, Cole FS, Hamvas A,. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res 2008; 63: 645-649.
13. Carre A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Leger J, Polak M,. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet 2009; 18: 2266-2276.
14. Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A,. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics 2012; 130: e1575-e1582.
15. Bullard J, Nogee LM,. Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein-C gene (SFTPC) mutation. Pediatr Res 2007; 62: 176-179.
16. Agrawal A, Hamvas A, Cole FS, Wambach JA, Wegner D, Coghill C, Harrison K, Nogee LM,. An intronic ABCA3 mutation that is responsible for respiratory disease. Pediatr Res 2012; 71: 633-637.
17. Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK,. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA 2007; 104: 7552-7557.
18. Wang Y, Kuan PJ, Xing C, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK,. Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. Am J Hum Genet 2009; 84: 52-59.
19. Ge H, Walhout AJ, Vidal M,. Integrating 'omic' information: a bridge between genomics and systems biology. Trends Genet 2003; 19: 551-560.
20. Hirsch J, Hansen KC, Burlingame AL, Matthay MA,. Proteomics: current techniques and potential applications to lung disease. Am J Physiol Lung Cell Mol Physiol 2004; 287: L1-L23.
21. Zichi D, Eaton B, Singer B, Gold L,. Proteomics and diagnostics: let's get specific, again. Curr Opin Chem Biol 2008; 12: 78-85.
22. Gold L, Ayers D, Bertino J, Bock C, Bock A, Brody EN, Carter J, Dalby AB, Eaton BE, Fitzwater T, Flather D, Forbes A, Foreman T, Fowler C, Gawande B, Goss M, Gunn M, Gupta S, Halladay D, Heil J, Heilig J, Hicke B, Husar G, Janjic N, Jarvis T, Jennings S, Katilius E, Keeney TR, Kim N, Koch TH, Kraemer S, Kroiss L, Le N, Levine D, Lindsey W, Lollo B, Mayfield W, Mehan M, Mehler R, Nelson SK, Nelson M, Nieuwlandt D, Nikrad M, Ochsner U, Ostroff RM, Otis M, Parker T, Pietrasiewicz S, Resnicow DI, Rohloff J, Sanders G, Sattin S, Schneider D, Singer B, Stanton M, Sterkel A, Stewart A, Stratford S, Vaught JD, Vrkljan M, Walker JJ, Watrobka M, Waugh S, Weiss A, Wilcox SK, Wolfson A, Wolk SK, Zhang C, Zichi D,. Aptamer-based multiplexed proteomic technology for biomarker discovery. PLoS ONE 2010; 5: e15004.
23. Deterding RR,. Infants and young children with children's interstitial lung disease. Pediatr Allergy Immunol Pulmonol 2010; 23: 25-31.
24. Al-Salmi QA, Walter JN, Colasurdo GN, Sockrider MM, Smith EO, Takahashi H, Fan LL,. Serum KL-6 and surfactant proteins A and D in pediatric interstitial lung disease. Chest 2005; 127: 403-407.
25. Doan ML, Elidemir O, Dishop MK, Zhang H, Smith EO, Black PG, Deterding RR, Roberts DM, Al-Salmi QA, Fan LL,. Serum KL-6 differentiates neuroendocrine cell hyperplasia of infancy from the inborn errors of surfactant metabolism. Thorax 2009; 64: 677-681.
26. Popler J, Wagner BD, Accurso FJ, Deterding RR,. Airway cytokine profiles in children's interstitial lung diseases. Am J Respir Crit Care Med 2010; 181: A6733.
27. Dishop M,. Diagnostic pathology of diffuse lung disease in children. Pediatr Allergy Immunol Pulmonol 2010; 23: 69-85.
28. Deterding RR, Wolfson A, Harris J, Walker JJ, Accurso FJ,. Aptamer proteomic analysis of bronchoalveolar lavage fluid yields different protein signatures from children with Children's Interstitial Lung Disease, Cystic Fibrosis and disease controls. Am J Respir Crit Care Med 2010; 181: A6722.
29. Deterding RR, Wolfson A, Harris JK, Walker J, Wagner BD, Accurso FJ,. Bronchoalveolar lavage protein biomarkers in children with surfactant dysfunction mutations; an aptamer proteomics approach (Aspen Lung Conference). Proc Am Thorac Soc 2011; 8: 210.
30. Shinoda H, Tasaka S, Fujishima S, Yamasawa W, Miyamoto K, Nakano Y, Kamata H, Hasegawa N, Ishizaka A,. Elevated CC chemokine level in bronchoalveolar lavage fluid is predictive of a poor outcome of idiopathic pulmonary fibrosis. Respiration 2009; 78: 285-292.
31. Thomas PD, Kejariwal A, Campbell MJ, Mi H, Diemer K, Guo N, Ladunga I, Ulitzky-Lazareva B, Muruganujan A, Rabkin S, Vandergriff JA, Doremieux O,. PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification. Nucleic Acids Res 2003; 31: 334-341.
32. Balch WE, Roth DM, Hutt DM,. Emergent properties of proteostasis in managing cystic fibrosis. Cold Spring Harbor Perspect Biol 2011; 3. pii: a004499. doi: 10.1101/cshperspect.a004499
33. Powers ET, Morimoto RI, Dillin A, Kelly JW, Balch WE,. Biological and chemical approaches to diseases of proteostasis deficiency. Annu Rev Biochem 2009; 78: 959-991.
34. Bouchecareilh M, Balch WE,. Proteostasis, an emerging therapeutic paradigm for managing inflammatory airway stress disease. Curr Mol Med 2012; 12: 815-826.
35. Balch WE, Morimoto RI, Dillin A, Kelly JW,. Adapting proteostasis for disease intervention. Science 2008; 319: 916-919.
36. Hutt D, Balch WE,. Cell biology. The proteome in balance. Science 2010; 329: 766-767.
37. Powers ET, Balch WE,. Protein folding: protection from the outside. Nature 2011; 471: 42-43.
38. Perl AK, Zhang L, Whitsett JA,. Conditional expression of genes in the respiratory epithelium in transgenic mice: cautionary notes and toward building a better mouse trap. Am J Respir Cell Mol Biol 2009; 40: 1-3.
39. Whitsett JA, Weaver TE,. Hydrophobic surfactant proteins in lung function and disease. N Engl J Med 2002; 347: 2141-2148.
40. Perl AK, Riethmacher D, Whitsett JA,. Conditional depletion of airway progenitor cells induces peribronchiolar fibrosis. Am J Respir Crit Care Med 2011; 183: 511-521.
41. Hardie WD, Le Cras TD, Jiang K, Tichelaar JW, Azhar M, Korfhagen TR,. Conditional expression of transforming growth factor-alpha in adult mouse lung causes pulmonary fibrosis. Am J Physiol Lung Cell Mol Physiol 2004; 286: L741-L749.
42. Guseh JS, Bores SA, Stanger BZ, Zhou Q, Anderson WJ, Melton DA, Rajagopal J,. Notch signaling promotes airway mucous metaplasia and inhibits alveolar development. Development 2009; 136: 1751-1759.
43. Tsao PN, Vasconcelos M, Izvolsky KI, Qian J, Lu J, Cardoso WV,. Notch signaling controls the balance of ciliated and secretory cell fates in developing airways. Development 2009; 136: 2297-2307.
44. Morimoto M, Liu Z, Cheng HT, Winters N, Bader D, Kopan R,. Canonical Notch signaling in the developing lung is required for determination of arterial smooth muscle cells and selection of Clara versus ciliated cell fate. J Cell Sci 2010; 123: 213-224.
45. Tsao PN, Wei SC, Wu MF, Huang MT, Lin HY, Lee MC, Lin KM, Wang IJ, Kaartinen V, Yang LT, Cardoso WV,. Notch signaling prevents mucous metaplasia in mouse conducting airways during postnatal development. Development 2011; 138: 3533-3543.
46. Guha A, Vasconcelos M, Cai Y, Yoneda M, Hinds A, Qian J, Li G, Dickel L, Johnson JE, Kimura S, Guo J, McMahon J, McMahon AP, Cardoso WV,. Neuroepithelial body microenvironment is a niche for a distinct subset of Clara-like precursors in the developing airways. Proc Natl Acad Sci USA 2012; 109: 12592-12597.
47. Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, Yamanaka S,. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 2007; 131: 861-872.
48. Takahashi K, Yamanaka S,. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 2006; 126: 663-676.
49. Stadtfeld M, Hochedlinger K,. Induced pluripotency: history, mechanisms, and applications. Genes Dev 2010; 24: 2239-2263.
50. Somers A, Jean JC, Sommer CA, Omari A, Ford CC, Mills JA, Ying L, Sommer AG, Jean JM, Smith BW, Lafyatis RA, Demierre MF, Weiss DJ, French DL, Gadue P, Murphy GJ, Mostoslavsky G, Kotton DN,. Generation of transgene-free lung disease-specific human iPS cells using a single excisable lentiviral stem cell cassette. Stem Cells 2010; 28: 1728-1740.
51. Longmire TA, Ikonomou L, Hawkins F, Christodoulou C, Cao Y, Jean JC, Kwok LW, Mou H, Rajagopal J, Shen SS, Dowton AA, Serra M, Weiss DJ, Green MD, Snoeck HW, Ramirez MI, Kotton DN,. Efficient derivation of purified lung and thyroid progenitors from embryonic stem cells. Cell Stem Cell 2012; 10: 398-411.
52. Mou H, Zhao R, Sherwood R, Ahfeldt T, Lapey A, Wain J, Sicilian L, Izvolsky K, Musunuru K, Cowan C, Rajagopal J,. Generation of multipotent lung and airway progenitors from mouse ESCs and patient-specific cystic fibrosis iPSCs. Cell Stem Cell 2012; 10: 385-397.
53. Green MD, Chen A, Nostro MC, d'Souza SL, Schaniel C, Lemischka IR, Gouon-Evans V, Keller G, Snoeck HW,. Generation of anterior foregut endoderm from human embryonic and induced pluripotent stem cells. Nat Biotechnol 2011; 29: 267-272.
54. Aslam M, Baveja R, Liang OD, Fernandez-Gonzalez A, Lee C, Mitsialis SA, Kourembanas S,. Bone marrow stromal cells attenuate lung injury in a murine model of neonatal chronic lung disease. Am J Respir Crit Care Med 2009; 180: 1122-1130.
55. Hansmann G, Fernandez-Gonzalez A, Aslam M, Vitali SH, Martin T, Mitsialis SA, Kourembanas S,. Mesenchymal stem cell-mediated reversal of bronchopulmonary dysplasia and associated pulmonary hypertension. Pulm Circ 2012; 2: 170-181.
56. Lee C, Mitsialis SA, Aslam M, Vitali SH, Vergadi E, Konstantinou G, Sdrimas K, Fernandez-Gonzalez A, Kourembanas S,. Exosomes mediate the cytoprotective action of mesenchymal stromal cells on hypoxia-induced pulmonary hypertension. Circulation 2012; 126: 2601-2611.