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Surfactant gene polymorphisms and interstitial lung diseases.

Pantelidis P, Veeraraghavan S, du Bois RM - Respir. Res. (2001)

Bottom Line: Pulmonary surfactant is a complex mixture of phospholipids and proteins, which is present in the alveolar lining fluid and is essential for normal lung function.Furthermore, a mutation in the surfactant protein C gene that results in complete absence of the protein has been shown to be associated with familial ILD.The role of surfactant in lung disease is therefore drawing increasing attention following the elucidation of the genetic basis underlying its surface expression and the proof of surfactant abnormalities in ILD.

View Article: PubMed Central - HTML - PubMed

Affiliation: Interstitial Lung Disease Unit, Department of Occupational and Environmental Medicine, Imperial College of Science, Technology and Medicine, National Heart and Lung Institute, & Royal Brompton Hospital, London, UK. s.veeraraghavan@ic.ac.uk

ABSTRACT
Pulmonary surfactant is a complex mixture of phospholipids and proteins, which is present in the alveolar lining fluid and is essential for normal lung function. Alterations in surfactant composition have been reported in several interstitial lung diseases (ILDs). Furthermore, a mutation in the surfactant protein C gene that results in complete absence of the protein has been shown to be associated with familial ILD. The role of surfactant in lung disease is therefore drawing increasing attention following the elucidation of the genetic basis underlying its surface expression and the proof of surfactant abnormalities in ILD.

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Related in: MedlinePlus

The figure shows the location of the surfactant gene polymorphisms. Exons are represented by black boxes and introns by straight lines (drawn to scale). The numbers refer to the positions of the amino acids in the proteins, as discussed in the text. Chr, chromosome; UTR, untranslated repeat.
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Figure 1: The figure shows the location of the surfactant gene polymorphisms. Exons are represented by black boxes and introns by straight lines (drawn to scale). The numbers refer to the positions of the amino acids in the proteins, as discussed in the text. Chr, chromosome; UTR, untranslated repeat.

Mentions: Genes mapped to human chromosomes 2p12-p11.2 and 8p21 encode the hydrophobic proteins SP-B and SP-C respectively. Several SNPs have been identified in the SP-B gene. Four of these polymorphisms, which reside in the 5' flanking region, intron 2, exon 4 and 3' untranslated regions of the gene, have the potential to affect function [20]. The exonic polymorphism substitutes residue 131 (Thr→Ile). There is also a variable nucleotide tandem repeat region, which is highly polymorphic, within intron 4 of the SP-B gene [21]. For the SP-C gene, there may be several SNPs as there are a number of variations between published SP-C sequences [22]. Figure 1 shows the intron/exon structure of the SP genes with the locations of polymorphisms discussed above.


Surfactant gene polymorphisms and interstitial lung diseases.

Pantelidis P, Veeraraghavan S, du Bois RM - Respir. Res. (2001)

The figure shows the location of the surfactant gene polymorphisms. Exons are represented by black boxes and introns by straight lines (drawn to scale). The numbers refer to the positions of the amino acids in the proteins, as discussed in the text. Chr, chromosome; UTR, untranslated repeat.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC64812&req=5

Figure 1: The figure shows the location of the surfactant gene polymorphisms. Exons are represented by black boxes and introns by straight lines (drawn to scale). The numbers refer to the positions of the amino acids in the proteins, as discussed in the text. Chr, chromosome; UTR, untranslated repeat.
Mentions: Genes mapped to human chromosomes 2p12-p11.2 and 8p21 encode the hydrophobic proteins SP-B and SP-C respectively. Several SNPs have been identified in the SP-B gene. Four of these polymorphisms, which reside in the 5' flanking region, intron 2, exon 4 and 3' untranslated regions of the gene, have the potential to affect function [20]. The exonic polymorphism substitutes residue 131 (Thr→Ile). There is also a variable nucleotide tandem repeat region, which is highly polymorphic, within intron 4 of the SP-B gene [21]. For the SP-C gene, there may be several SNPs as there are a number of variations between published SP-C sequences [22]. Figure 1 shows the intron/exon structure of the SP genes with the locations of polymorphisms discussed above.

Bottom Line: Pulmonary surfactant is a complex mixture of phospholipids and proteins, which is present in the alveolar lining fluid and is essential for normal lung function.Furthermore, a mutation in the surfactant protein C gene that results in complete absence of the protein has been shown to be associated with familial ILD.The role of surfactant in lung disease is therefore drawing increasing attention following the elucidation of the genetic basis underlying its surface expression and the proof of surfactant abnormalities in ILD.

View Article: PubMed Central - HTML - PubMed

Affiliation: Interstitial Lung Disease Unit, Department of Occupational and Environmental Medicine, Imperial College of Science, Technology and Medicine, National Heart and Lung Institute, & Royal Brompton Hospital, London, UK. s.veeraraghavan@ic.ac.uk

ABSTRACT
Pulmonary surfactant is a complex mixture of phospholipids and proteins, which is present in the alveolar lining fluid and is essential for normal lung function. Alterations in surfactant composition have been reported in several interstitial lung diseases (ILDs). Furthermore, a mutation in the surfactant protein C gene that results in complete absence of the protein has been shown to be associated with familial ILD. The role of surfactant in lung disease is therefore drawing increasing attention following the elucidation of the genetic basis underlying its surface expression and the proof of surfactant abnormalities in ILD.

Show MeSH
Related in: MedlinePlus