Surfactant dysfunction | hyaline membrane disease
Surfactantdysfunctioniscausedbymutationsinoneofseveralgenes,includingSFTPB[1],SFTPC[2],andABCA3[3].Eachofthesegenesisinvolvedintheproductionofsurfactant.Theproductionandreleaseofsurfactantisacomplexprocess.Thephospholipidsandproteinsthatmakeupsurfactantarepackagedincellularstructuresknownaslamellarbodies.Thesestructuresarealsoimportantforsomeprocessingofsurfactantproteins,whichisnecessaryfortheproteinstomatureandbecomefunctional.Surfactantisreleasedfromthelungcellsandspreadsacrossthetissueth...
Surfactant dysfunction is caused by mutations in one of several genes, including SFTPB[1], SFTPC[2], and ABCA3[3]. Each of these genes is involved in the production of surfactant. The production and release of surfactant is a complex process. The phospholipids and proteins that make up surfactant are packaged in cellular structures known as lamellar bodies. These structures are also important for some processing of surfactant proteins, which is necessary for the proteins to mature and become functional. Surfactant is released from the lung cells and spreads across the tissue that surrounds alveoli. This substance lowers surface tension, which keeps the alveoli from collapsing after exhalation and makes breathing easy.
The SFTPB and SFTPC genes provide instructions for making surfactant protein-B (SP-B) and surfactant protein-C (SP-C), respectively, two of the four proteins in surfactant. These two proteins help spread the surfactant across the surface of the lung tissue, aidin...