Alterations in SP-B and SP-C expression in neonatal lung disease

被引:149
作者
Nogee, LM [1 ]
机构
[1] Johns Hopkins Univ, Sch Med, Dept Pediat, Div Neonatol, Baltimore, MD 21287 USA
关键词
respiratory distress syndrome; lung development; mutation; genetic basis of disease; interstitial lung disease;
D O I
10.1146/annurev.physiol.66.032102.134711
中图分类号
Q4 [生理学];
学科分类号
071003 ;
摘要
The hydrophobic surfactant proteins, SP-B and SP-C, have important roles in surfactant function. The importance of these proteins in normal lung function is highlighted by the lung diseases associated with abnormalities in their expression. Mutations in the gene encoding SP-B result in severe, fatal neonatal lung disease, and mutations in the gene encoding SP-C are associated with chronic interstitial lung diseases in newborns, older children, and adults. This work reviews the current state of knowledge concerning the lung diseases associated with mutations in the SP-B and SP-C genes, and the potential roles of abnormal SP-B and SP-C expression and genetic variation in these genes in other lung diseases.
引用
收藏
页码:601 / 623
页数:29
相关论文
共 149 条
[71]   Association of pulmonary surfactant protein A (SP-A) gene and respiratory distress syndrome: Interaction with SP-B [J].
Kala, P ;
Ten Have, T ;
Nielsen, H ;
Dunn, M ;
Floros, J .
PEDIATRIC RESEARCH, 1998, 43 (02) :169-177
[72]   THE PULMONARY SURFACTANT PROTEIN-C (SP-C) PRECURSOR IS A TYPE-II TRANSMEMBRANE PROTEIN [J].
KELLER, A ;
EISTETTER, HR ;
VOSS, T ;
SCHAFER, KP .
BIOCHEMICAL JOURNAL, 1991, 277 :493-499
[73]   TEMPORAL-SPATIAL DISTRIBUTION OF SP-B AND SP-C PROTEINS AND MESSENGER-RNAS IN DEVELOPING RESPIRATORY EPITHELIUM OF HUMAN LUNG [J].
KHOOR, A ;
STAHLMAN, MT ;
GRAY, ME ;
WHITSETT, JA .
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 1994, 42 (09) :1187-1199
[74]   Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor [J].
Kitamura, T ;
Tanaka, N ;
Watanabe, J ;
Uchida, K ;
Kanegasaki, S ;
Yamada, Y ;
Nakata, K .
JOURNAL OF EXPERIMENTAL MEDICINE, 1999, 190 (06) :875-880
[75]   Transient surfactant protein B deficiency in a term infant with severe respiratory failure [J].
Klein, JM ;
Thompson, MW ;
Snyder, JM ;
George, TN ;
Whitsett, JA ;
Bell, EF ;
McCray, PB ;
Nogee, LM .
JOURNAL OF PEDIATRICS, 1998, 132 (02) :244-248
[76]   Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency [J].
Krude, H ;
Schütz, B ;
Biebermann, H ;
von Moers, A ;
Schnabel, D ;
Neitzel, H ;
Tönnies, H ;
Weise, D ;
Lafferty, A ;
Schwarz, S ;
DeFelice, M ;
von Deimling, A ;
van Landeghem, F ;
DiLauro, R ;
Grüters, A .
JOURNAL OF CLINICAL INVESTIGATION, 2002, 109 (04) :475-480
[77]   Dosing and delivery of a recombinant surfactant in lung-injured adult sheep [J].
Lewis, J ;
McCaig, L ;
Häfner, D ;
Spragg, R ;
Veldhuizen, R ;
Kerr, C .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 1999, 159 (03) :741-747
[78]   Structural requirements for intracellular transport of pulmonary surfactant protein B (SP-B) [J].
Lin, S ;
Phillips, KS ;
Wilder, MR ;
Weaver, TE .
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, 1996, 1312 (03) :177-185
[79]   Structural requirements for targeting of surfactant protein B (SP-B) to secretory granules in vitro and in vivo [J].
Lin, S ;
Akinbi, HT ;
Breslin, JS ;
Weaver, TE .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (33) :19689-19695
[80]   Polymorphisms of human SP-A, SP-B, and SP-D genes:: association of SP-B Thr131Ile with ARDS [J].
Lin, Z ;
Pearson, C ;
Chinchilli, V ;
Pietschmann, SM ;
Luo, J ;
Pison, U ;
Floros, J .
CLINICAL GENETICS, 2000, 58 (03) :181-191