SFTPA2B - Clinical Significance

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. Alterations of the relative levels of SP-A1 and SP-A2 have been found in BALF from patients with cystic fibrosis, asthma, and infection.

SFTPA2 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. Mutations in the SFTPA2 gene are found in patients with interstitial lung disease and lung cancer. SFTPA2 mutations also associated with pulmonary fibrosis via mechanisms that involve protein instability and endoplasmic reticulum stress. Methylation of SFTPA2 and SFTPA1 promoter sequences has also been found in lung cancer tissue.