Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children

Human Molecular Genetics

Volumn 21, Issue 4, 2012, Pages 765-775

  Flamein, Florence ^a   Riffault, Laure ^a   Muselet charlier, Céline ^a   Pernelle, Julie ^a   Feldmann, Delphine ^c   Jonard, Laurence ^c   Durand schneider, Anne Marie ^a   Coulomb, Aurore ^c   Maurice, Michèle ^a   Nogee, Lawrence M ^d   Inagaki, Nobuya ^e   Amselem, Serge ^b   Dubus, Jean Christophe ^f   Rigourd, Virginie ^g   Brémont, François ^h   Marguet, Christophe ⁱ   Brouard, Jacques ^j   De blic, Jacques ^k   Clement, Annick ^a,c   Epaud, Ralph ^l,m   Guillot, Loïc ^a   more..

^a INSERM   (France)

^b Assistance publique Hôpitaux de Paris   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e KYOTO UNIVERSITY   (Japan)

^f TIMONE HOSPITAL   (France)

^g Institut de Puericulture   (France)

^h TOULOUSE UNIVERSITY HOSPITAL   (France)

ⁱ ROUEN UNIVERSITY HOSPITAL   (France)

^j CAEN UNIVERSITY HOSPITAL   (France)

^k UNIVERSITÉ PARIS DESCARTES   (France)

^l INSERM U955   (France)

^m UNIVERSITÉ PARIS EST CRÉTEIL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCA3 PROTEIN; INTERLEUKIN 8; LUNG SURFACTANT; UNCLASSIFIED DRUG;

ARTICLE; CELL HYPERPLASIA; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYTOKINE RELEASE; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN CELL; HYPOXEMIA; IN VITRO STUDY; INFANT; INTERSTITIAL LUNG DISEASE; LAMELLAR BODY; LUNG ALVEOLUS CELL TYPE 2; LUNG ALVEOLUS MACROPHAGE; LUNG BIOPSY; LUNG FIBROSIS; MALE; MISSENSE MUTATION; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; NONSENSE MUTATION; ONSET AGE; PRIORITY JOURNAL; RESPIRATORY FAILURE; TACHYPNEA;

ATP-BINDING CASSETTE TRANSPORTERS; BRONCHOALVEOLAR LAVAGE FLUID; CHILD; CYTOKINES; FEMALE; HUMANS; LUNG DISEASES, INTERSTITIAL; MALE; MUTATION; PEDIGREE;

EID: 84856364427     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr508     Document Type: Article

References (35)

1. Bullard, J.E., Wert, S.E., Whitsett, J.A., Dean, M. and Nogee, L.M. (2005) ABCA3 mutations associated with pediatric interstitial lung disease. Am. J. Respir. Crit. Care. Med., 172, 1026-1031.
2. Deutsch, G.H., Young, L.R., Deterding, R.R., Fan, L.L., Dell, S.D., Bean, J.A., Brody, A.S., Nogee, L.M., Trapnell, B.C., Langston, C. et al. (2007) Diffuse lung disease in young children: application of a novel classification scheme. Am. J. Respir. Crit. Care. Med., 176, 1120-1128.
3. Hartl, D. and Griese, M. (2005) Interstitial lung disease in children- genetic background and associated phenotypes. Respir. Res., 6, 32.
4. Nogee, L.M., Garnier, G., Dietz, H.C., Singer, L., Murphy, A.M., deMello, D.E. and Colten, H.R. (1994) A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J. Clin. Invest., 93, 1860-1863.
5. Guillot, L., Epaud, R., Thouvenin, G., Jonard, L., Mohsni, A., Couderc, R., Counil, F., de Blic, J., Taam, R.A., Le Bourgeois, M. et al. (2009) New surfactant protein C gene mutations associated with diffuse lung disease. J. Med. Genet., 46, 490-494.
6. Stahlman, M.T., Besnard, V., Wert, S.E., Weaver, T.E., Dingle, S., Xu, Y., von Zychlin, K., Olson, S.J. and Whitsett, J.A. (2007) Expression of ABCA3 in developing lung and other tissues. J. Histochem. Cytochem., 55, 71-83.
7. Mulugeta, S., Gray, J.M., Notarfrancesco, K.L., Gonzales, L.W., Koval, M., Feinstein, S.I., Ballard, P.L., Fisher, A.B. and Shuman, H. (2002) Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3. J. Biol. Chem., 277, 22147-22155.
8. Connors, T.D., Van Raay, T.J., Petry, L.R., Klinger, K.W., Landes, G.M. and Burn, T.C. (1997) The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3. Genomics, 39, 231-234.
9. Klugbauer, N. and Hofmann, F. (1996) Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein. FEBS Lett., 391, 61-65.
10. Shulenin, S., Nogee, L.M., Annilo, T., Wert, S.E., Whitsett, J.A. and Dean, M. (2004) ABCA3 gene mutations in newborns with fatal surfactant deficiency. N. Engl. J. Med., 350, 1296-1303.
11. Brasch, F., Schimanski, S., Muhlfeld, C., Barlage, S., Langmann, T., Aslanidis, C., Boettcher, A., Dada, A., Schroten, H., Mildenberger, E. et al. (2006) Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am. J. Respir. Crit. Care. Med., 174, 571-580.
12. Whitsett, J.A., Wert, S.E. and Xu, Y. (2005) Genetic disorders of surfactant homeostasis. Biol. Neonate., 87, 283-287.
13. Doan, M.L., Guillerman, R.P., Dishop, M.K., Nogee, L.M., Langston, C., Mallory, G.B., Sockrider, M.M. and Fan, L.L. (2008) Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax, 63, 366-373.
14. Somaschini, M., Nogee, L.M., Sassi, I., Danhaive, O., Presi, S., Boldrini, R., Montrasio, C., Ferrari, M., Wert, S.E. and Carrera, P. (2007) Unexplained neonatal respiratory distress due to congenital surfactant deficiency. J. Pediatr., 150, 649-653, 653 e641.
15. Cheong, N., Madesh, M., Gonzales, L.W., Zhao, M., Yu, K., Ballard, P.L. and Shuman, H. (2006) Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome. J. Biol. Chem., 281, 9791-9800.
16. Matsumura, Y., Ban, N., Ueda, K. and Inagaki, N. (2006) Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J. Biol. Chem., 281, 34503-34514.
17. Nagata, K., Yamamoto, A., Ban, N., Tanaka, A.R., Matsuo, M., Kioka, N., Inagaki, N. and Ueda, K. (2004) Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles. Biochem. Biophys. Res. Commun., 324, 262-268.
18. Weichert, N., Kaltenborn, E., Hector, A., Woischnik, M., Schams, A., Holzinger, A., Kern, S. and Griese, M. (2011) Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells. Respir. Res., 12, 4.
19. Hoffmann, E., Dittrich-Breiholz, O., Holtmann, H. and Kracht, M. (2002) Multiple control of interleukin-8 gene expression. J. Leukoc. Biol., 72, 847-855.
20. Muselet-Charlier, C., Roque, T., Boncoeur, E., Chadelat, K., Clement, A., Jacquot, J. and Tabary, O. (2007) Enhanced IL-1beta-induced IL-8 production in cystic fibrosis lung epithelial cells is dependent of both mitogen-activated protein kinases and NF-kappaB signaling. Biochem. Biophys. Res. Commun., 357, 402-407.
21. Park, S.K., Amos, L., Rao, A., Quasney, M.W., Matsumura, Y., Inagaki, N. and Dahmer, M.K. (2010) Identification and characterization of a novel ABCA3 mutation. Physiol. Genomics, 40, 94-99.
22. Cheong, N., Zhang, H., Madesh, M., Zhao, M., Yu, K., Dodia, C., Fisher, A.B., Savani, R.C. and Shuman, H. (2007) ABCA3 is critical for lamellar body biogenesis in vivo. J. Biol. Chem., 282, 23811-23817.
23. Matsumura, Y., Ban, N. and Inagaki, N. (2008) Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease. Am. J. Physiol. Lung Cell. Mol. Physiol., 295, L698-707.
24. Bullard, J.E. and Nogee, L.M. (2007) Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr. Res., 62, 176-179.
25. Hamvas, A. (2006) Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin. Perinatol., 30, 316-326.
26. Edwards, V., Cutz, E., Viero, S., Moore, A.M. and Nogee, L. (2005) Ultrastructure of lamellar bodies in congenital surfactant deficiency. Ultrastruct. Pathol., 29, 503-509.
27. Matsumura, Y., Sakai, H., Sasaki, M., Ban, N. and Inagaki, N. (2007) ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells. FEBS Lett., 581, 3139-3144.
28. Ridsdale, R., Na, C.L., Xu, Y., Greis, K.D. and Weaver, T. (2010) Comparative proteomic analysis of lung lamellar bodies and lysosome-related organelles. PLoS One, 6, e16482.
29. Maguire, J.A., Mulugeta, S. and Beers, M.F. (2011) Endoplasmic reticulum stress induced by surfactant protein C BRICHOS mutants promotes proinflammatory signaling by epithelial cells. Am. J. Respir. Cell Mol. Biol., 44, 404-414.
30. Willis, B.C. and Borok, Z. (2007) TGF-beta-induced EMT: mechanisms and implications for fibrotic lung disease. Am. J. Physiol. Lung Cell. Mol. Physiol., 293, L525-534.
31. Hartl, D., Griese, M., Nicolai, T., Zissel, G., Prell, C., Reinhardt, D., Schendel, D.J. and Krauss-Etschmann, S. (2005) A role for MCP-1/CCR2 in interstitial lung disease in children. Respir. Res., 6, 93.
32. Woischnik, M., Sparr, C., Kern, S., Thurm, T., Hector, A., Hartl, D., Liebisch, G., Mulugeta, S., Beers, M.F., Schmitz, G. et al. (2010) A non-BRICHOS surfactant protein c mutation disrupts epithelial cell function and intercellular signaling. BMC Cell Biol., 11, 88.
33. Guillot, L., Carre, A., Szinnai, G., Castanet, M., Tron, E., Jaubert, F., Broutin, I., Counil, F., Feldmann, D., Clement, A. et al. (2010) NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in 'brain-lung-thyroid syndrome'. Hum. Mutat., 31, E1146-E1162.
34. Guillot, L., Medjane, S., Le-Barillec, K., Balloy, V., Danel, C., Chignard, M. and Si-Tahar, M. (2004) Response of human pulmonary epithelial cells to lipopolysaccharide involves Toll-like receptor 4 (TLR4)-dependent signaling pathways: evidence for an intracellular compartmentalization of TLR4. J. Biol. Chem., 279, 2712-2718.
35. Guillot, L., Carroll, S.F., Badawy, M. and Qureshi, S.T. (2008) Cryptococcus neoformans induces IL-8 secretion and CXCL1 expression by human bronchial epithelial cells. Respir. Res., 9, 9.