Lung fibrosis-associated surfactant protein A1 and C variants induce latent transforming growth factor β1 secretion in lung epithelial cells.

Maitra, Meenakshi; Dey, Moushumi; Yuan, Wen; Nathanielsz, Peter W.; Garcia, Christine Kim

doi:10.1074/jbc.a113.475335

Cited by 2 publications

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“…Three articles were excluded due to uncertainty as to whether the reported mutations were likely to be disease‐causing. One article was excluded because it had been retracted by the authors . A total of 30 articles were ultimately included for qualitative synthesis in our study (Fig.…”

Section: Methodsmentioning

confidence: 99%

A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy

et al. 2016

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Mutations of the Surfactant Protein C (SPC) gene (SFTPC) have been associated with childhood interstitial lung disease (chILD) with variable age of onset, severity of lung disease, and outcomes. We report a novel mutation in SFTPC [c.435G->A, p.(Gln145)] that was associated with onset of symptoms in early infancy, progressive respiratory failure with need for prolonged mechanical ventilatory support, and eventual lung transplant at 1 year of age. While the mutation was not predicted to alter the amino acid sequence of the SP-C precursor protein, analysis of SP-C transcripts demonstrated skipping of exon 4. Because of limited data about the outcomes of infants with SFTPC mutations, we conducted a systematic review of all the SFTPC mutations reported in the literature in order to define their presenting features, clinical and radiologic features, and outcomes. Further advances in our understanding of chILD and creation of an international registry will help to track these patients and their outcomes. Pediatr Pulmonol. 2017;52:57-68. © 2016 Wiley Periodicals, Inc.

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Section: Methodsmentioning

confidence: 99%

A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy

et al. 2016

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“…Moreover, the two variants p.T138N and p.S186N were described as minor alleles in two unrelated Finnish infants suffering respiratory distress syndrome (RDS) whose ages were less than 34 weeks with frequencies 0.20 and 0.22, respectively. Meanwhile, another study included 100 American patients assigned with familial pulmonary fibrosis, investigating the same two variants in frequencies of 0.255 and 0.318, respectively [33,34].…”

Section: Results Of Molecular Analysismentioning

confidence: 99%

Correlating SFTPC gene variants to interstitial lung disease in Egyptian children

Megeid

Refeat

Ashaat

et al. 2022

Journal of Genetic Engineering and Biotechnology

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Background Interstitial lung disease (ILD) is a broad heterogeneous group of lung disorders that is characterized by inflammation of the lungs. Surfactant dysfunction disorders are a rare form of ILD diseases that result from mutations in surfactant protein C gene (SFTPC) with prevalence of approximately 1/1.7 million births. SFTPC patients are presented with clinical manifestations of ILD ranging from fatal respiratory failure of newborn to chronic respiratory problems in children. In the current study, we aimed to investigate the spectrum of SFTPC genetic variants as well as the correlation of the SFTPC gene mutations with ILD disease in twenty unrelated Egyptian children with diffuse lung disease and suspected surfactant dysfunction using Sanger sequencing. Results Sequencing of SFTPC gene revealed five variants: c.42+35G>A (IVS1+35G>A) (rs8192340) and c.43-21T>C (IVS1-21T>C) (rs13248346) in intron 1, c.436-8C>G (IVS4-8C>G) (rs2070687) in intron 4, c.413C>A p.T138N (rs4715) in exon 4, and c.557G>Ap.S186N (rs1124) in exon 5. Conclusion The present study confirms the association of detecting variants of SFTPC with surfactant dysfunction disorders.

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Lung fibrosis-associated surfactant protein A1 and C variants induce latent transforming growth factor β1 secretion in lung epithelial cells.

Abstract: The data demonstrating a marked increase in ELISA-detectable TGF-␤ from HBEC-3KT cells expressing human surfactant A1 proteins (R219W and R242*) are not reproducible.

Cited by 2 publications

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A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy

A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy

Correlating SFTPC gene variants to interstitial lung disease in Egyptian children

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