Clinical Significance
Deficiency in SP-A levels is associated with infant respiratory distress syndrome in prematurely born infants with developmental insufficiency of surfactant production and structural immaturity in the lungs.
SFTPA1 genetic variants, SNPs, haplotypes, and other genetic variations have been associated with acute and chronic lung disease in several populations of neonates, children, and adults. Genetic variations in SFTPA1 have been associated with susceptibility to idiopathic pulmonary fibrosis, a lung disease characterized by shortness of breath, pulmonary infiltrates and inflammation that results in acute lung injury with subsequent scarring of lung tissue. Genetic variations in SFTPA1 are also a cause of susceptibility to respiratory distress syndrome in premature infants, a lung disease characterized by deficient gas exchange, diffuse atelectasis, high-permeability lung edema and fibrin-rich alveolar deposits "surfactant protein A1". . The ratio of SP-A1 to total SP-A has been correlated with lung disease (e.g. asthma, cystic fibrosis) and aging. Methylation of SFTPA1 promoter sequences has also been found in lung cancer tissue.
Read more about this topic: Pulmonary Surfactant-associated Protein A1
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