Surfactant protein deficiency in familial interstitial lung disease

Paediatric interstitial lung disease

“…The maternal grandfather had died of a life-long undiagnosed respiratory disorder. The same abnormality has been described in other kindreds with ILD [55,56].…”

Epigenetic Mechanisms Modulate Thyroid Transcription Factor 1-mediated Transcription of the Surfactant Protein B Gene

“…The nature of the Brg1 complexes bound to the Sftpb promoter will require further evaluation as Brg1 is found in several types of chromatin remodeling complexes (80). Sftpb mRNA levels vary among different cell types in the lung and among individuals and are differentially regulated in lung diseases (5)(6)(7)(8)14). In particular, reduced Sftpb levels are correlated with surfactant dysfunction and susceptibility to lung injury.…”

“…In humans, inherited Sftpb deficiency is associated with the development of newborn respiratory distress syndrome (5), the major cause of neonatal morbidity and mortality in developed nations. Sftpb levels are also reduced in a variety of lung diseases such as adult respiratory distress syndrome (6), familial interstitial lung disease (7), respiratory syncytial virus infection (8), and inflammatory diseases of the lung (9,10). The Sftpb gene is expressed in the developing lung epithelium and in alveolar type II and bronchiolar Clara cells in the adult lung; this gene is regulated in a multifactorial manner by hormones, growth factors, and cytokines (11).…”

A novel surfactant protein C L55F mutation associated with interstitial lung disease alters subcellular localization of proSP-C in A549 cells

“…Control lung tissue was resected for malignancy. Immunohistochemistry was performed with antibodies against proSP-C, SP-B, ABCA3 (Abcam, Cambridge, UK), or proSP-B (Novocastra, Newcastle, UK), according to standard protocols (30).…”