Surfactant protein C gene variation in the Finnish population – association with perinatal respiratory disease

Lahti, Matti; Marttila, Riitta; Hallman, Mikko

doi:10.1038/sj.ejhg.5201137

Cited by 66 publications

(41 citation statements)

References 31 publications

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“…We did not have sufficient power to pursue the contribution of these more rare mutations to the disease-based risk for RDS in our neonatal intensive care unit cohort that was not enriched for lethal RDS. Common variants in SFTPB and SFTPC with minor allele frequencies Ն0.2 have also been associated with the risk for RDS, but the mechanisms by which these variants and combinations thereof impart risk are undetermined (27)(28)(29)(30). To our knowledge, the contribution of common variants in ABCA3 to the risk of RDS has not been evaluated.…”

Section: Discussionmentioning

confidence: 99%

Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency

et al. 2008

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ABSTRACT:The prevalence of the common mutations in the surfactant protein-B (121ins2), surfactant protein-C (I73T), and ATP-binding cassette member A3 (E292V) genes in populationbased or case-control cohorts of newborn respiratory distress syndrome (RDS) is unknown. We determined the frequencies of these mutations in ethnically diverse population and disease-based cohorts using restriction enzyme analysis (121ins2 and E292V) and a 5Ј nuclease assay (I73T) in DNA samples from population-based cohorts in Missouri, Norway, South Korea, and South Africa, and from a case-control cohort of newborns with and without RDS (n ϭ 420). We resequenced the ATP-binding cassette member A3 gene (ABCA3) in E292V carriers and computationally inferred ABCA3 haplotypes. The population-based frequencies of 121ins2, E292V, and I73T were rare (Ͻ0.4%). E292V was present in 3.8% of newborns with RDS, a 10-fold greater prevalence than in the Missouri cohort (p Ͻ 0.001). We did not identify other loss of function mutations in ABCA3 among patients with E292V that would account for their RDS. E292V occurred on a unique haplotype that was derived from a recombination of two common ABCA3 haplotypes. E292V was over-represented in newborns with RDS suggesting that E292V or its unique haplotype impart increased genetic risk for RDS. (Pediatr Res 63: 645-649, 2008)

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Section: Discussionmentioning

confidence: 99%

Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency

et al. 2008

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“…25,26 Deletion of SP-B induces aberrant processing of proSP-C as well as defects in lamellar body formation. SP-C deficits are related to acute and chronic infant lung diseases in humans 27 and respiratory failure in cattle. 28 Furthermore, mutations in proSP-C have been correlated with chronic interstitial pneumonia.…”

Section: Discussionmentioning

confidence: 99%

Aberrant quality control in the endoplasmic reticulum impairs the biosynthesis of pulmonary surfactant in mice expressing mutant BiP

et al. 2007

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Accumulation of misfolded proteins in the endoplasmic reticulum (ER) induces the unfolded protein response (UPR), which alleviates protein overload in the secretory pathway. Although the UPR is activated under diverse pathological conditions, its physiological role during development and in adulthood has not been fully elucidated. Binding immunoglobulin protein (BiP) is an ER chaperone, which is central to ER function. We produced knock-in mice expressing a mutant BiP lacking the retrieval sequence to cause a defect in ER function without completely eliminating BiP. In embryonic fibroblasts, the UPR compensated for mutation of BiP. However, neonates expressing mutant BiP suffered respiratory failure due to impaired secretion of pulmonary surfactant by alveolar type II epithelial cells. Expression of surfactant protein (SP)-C was reduced and the lamellar body was malformed, indicating that BiP plays a critical role in the biosynthesis of pulmonary surfactant. Because pulmonary surfactant requires extensive post-translational processing in the secretory pathway, these findings suggest that in secretory cells, such as alveolar type II cells, the UPR is essential for managing the normal physiological ER protein overload that occurs during development. Moreover, failure of this adaptive mechanism may increase pulmonary susceptibility to environmental insults, such as hypoxia and ischemia, ultimately leading to neonatal respiratory failure.

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“…This method identifies different alleles through heteroduplex DNA molecules represented as co-dominant markers, avoiding false-positive interpretations. CSGE has been used with great success in several polymorphism studies (Finnilä et al, 2000;Lahti et al, 2004;Krawczynski et al, 2004;Karppinen et al, 2006), and in the detection of specific mutations (Vianello et al, 2002;Körkkö et al, 2002;Sundaresan et al, 2007). The sensitivity of CSGE has already been described and discussed in several works, and its application in polymorphism identification among individuals results in more than 90% fidelity (Ganguly et al, 1993;Ganguly, 2002).…”

Section: Resultsmentioning

confidence: 99%

Allelic variability in the third intron of the fibroin light chain gene in Bombyx mori (Lepidoptera: Bombycidae)

Barbosa¹,

Bravo²,

Zanatta³

et al. 2009

Genet. Mol. Res.

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ABSTRACT. Conformation-sensitive gel electrophoresis is a useful method for identifying allele polymorphism; it provides co-dominant molecular markers. Using this method, we identified genetic variability in the third intron of the fibroin light chain gene, fib-L, in six Bombyx mori strains. Only Chinese C21A strain did not demonstrate allelic alterations, showing only homoduplex DNA molecules. We found distinct heteroduplex profiles in the Japanese HAA, M12B and M19-2 and the Chinese C25B and C24-2 strains. Analysis with restriction endonuclease fingerprinting conformation-sensitive gel electrophoresis demonstrated the potential of this method for the identification of allelic variability in B. mori; this was confirmed by cloning and sequencing the different alleles. The main alteration was a 12-bp deletion in two alleles of the C24-2 strain and one allele of the HAA strain; this deletion results in specific heteroduplex DNA molecule profiles.

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Surfactant protein C gene variation in the Finnish population – association with perinatal respiratory disease

Cited by 66 publications

References 31 publications

Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency

Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency

Aberrant quality control in the endoplasmic reticulum impairs the biosynthesis of pulmonary surfactant in mice expressing mutant BiP

Allelic variability in the third intron of the fibroin light chain gene in Bombyx mori (Lepidoptera: Bombycidae)

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