Surfactant protein C genes

Nogee LM, Dunbar AE III, Wert SE, et al. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med 2001 344(8) 573-579. 

Hamvas A, Nogee LM, White FV, et al. Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. Am J Respir Cell Mol Biol... 

Thomas AQ, Lane K, Phillips J HI, et al. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med 2002 165(9) 1322-1328. 

DIP usually affects adults age at onset of symptoms is generally 30 to 50 years (8,10,17). Approximately 80% to 90% of patients with DIP are active smokers or have smoked in the past (8,10,17,18). There have been cases of DIP associated with connective tissue diseases, viral infections (e.g., hepatitis C), occupational/ environmental exposures, and drugs (e.g., nitrofurantoin) (17-21). In addition, a lesion resembling DIP has been described in infants with mutations in the surfactant protein C gene (22). 

Wikenheiser K, Clark J, Linnoila R, Stahlman M, Whitsett J. Simian virus 40 large T antigen directed by transcriptional elements of the human surfactant protein C gene produces pulmonary adenocarcinomas in transgenic mice. Cancer Res 1992 52 5342-5352. 

Alveoli represent the primary site for gas exchange within the lung, and thus their health is vital for survival. Alveolar conditions with a primary genetic cause, such as surfactant protein-B (SP-B) deficiency and SP-C deficiency, are prime candidates for a rAAV-gene therapy approach. Diseases in which alveoli are damaged secondary to other defects might also be treated with gene transfer. Such conditions include environmental toxin exposure, infectious diseases, and adult respiratory distress syndrome (ARDS) (Table 4.1) (Rolls et al., 1997, 1998, 2001 Cheers et al 1999 Ruan et al., 2002). 

---