{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSurfactant protein C (SP‐C), encoded by the SFTPC gene, is a critical component of pulmonary surfactant that is produced exclusively by alveolar type II cells. In its normal state, SP‐C is synthesized as a 21‐kDa proprotein (proSP‐C) that undergoes a complex series of oligomerization, trafficking, and proteolytic processing events—processes essential for its proper association with surfactant lipids and for reducing surface tension at the air–liquid interface in the alveoli. Disruption of these finely tuned processes, as revealed by biochemical and developmental studies in cell culture and animal models, underscores SP‐C’s central role in the maintenance of normal lung architecture and function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in SFTPC—most notably those affecting the BRICHOS domain—interfere with the normal folding and intracellular trafficking of proSP‐C, leading to its misprocessing, aberrant subcellular accumulation, and the generation of partially processed or misfolded protein aggregates. Such molecular mishaps trigger endoplasmic reticulum stress and activation of the unfolded protein response, which in turn can promote alveolar type II cell injury, apoptosis, and the emergence of inflammatory signaling cascades. These pathogenic processes have been closely linked to a spectrum of interstitial lung diseases (ILD), including familial pulmonary fibrosis, nonspecific interstitial pneumonia, and even pulmonary alveolar proteinosis, with the clinical phenotype often modified by additional genetic and environmental factors."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "20"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, proper SP‐C processing is orchestrated by proteases such as cathepsin H and by intrinsic chaperone‐like functions of the BRICHOS domain, which normally prevents the otherwise amyloidogenic transmembrane segment from misfolding into β‐sheet aggregates. In the context of disease, mutations that compromise the BRICHOS domain’s protective activity lead to enhanced amyloid-like aggregation and cytotoxicity. Furthermore, additional genetic modifiers—such as heterozygous variants in the ABCA3 gene—as well as environmental insults, have been shown to influence disease penetrance and severity by exacerbating abnormal proSP‐C processing, impairing surfactant recycling, and augmenting inflammatory signaling (for example, via JNK activation). Recent studies employing patient-derived induced pluripotent stem cell models have further illuminated how SFTPC mutations underlie a progressive loss of alveolar epithelial cell progenitor capacity and contribute to chronic lung remodeling."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "21", "end_ref": "29"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Wen-Jing Wang, Scott J Russo, Surafel Mulugeta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biosynthesis of surfactant protein C (SP-C). Sorting of SP-C proprotein involves homomeric association via a signal anchor domain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M201537200"}], "href": "https://doi.org/10.1074/jbc.M201537200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11907042"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11907042"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Meri Lahti, Riitta Marttila, Mikko Hallman "}, {"type": "b", "children": [{"type": "t", "text": "Surfactant protein C gene variation in the Finnish population - association with perinatal respiratory disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.ejhg.5201137"}], "href": "https://doi.org/10.1038/sj.ejhg.5201137"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14735158"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14735158"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Susan E Wert, Jeffrey A Whitsett, Lawrence M Nogee "}, {"type": "b", "children": [{"type": "t", "text": "Genetic disorders of surfactant dysfunction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Dev Pathol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2350/09-01-0586.1"}], "href": "https://doi.org/10.2350/09-01-0586.1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19220077"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19220077"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Nan Ma, Hui Gai, Ju Mei, et al. 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