Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS)

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R-HSA-5688031
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Homo sapiens
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Pulmonary surfactant-associated protein B (SFTPB), amongst other roles, is a component of surfactant, a surface-active film that helps reduce surface tension in alveoli. Defects in the SFTPB gene result in loss-of-function SFTPB proteins and accumulation of partially-processed , inactive pro-SFTPC in alveoli. Defects in SFTPB can cause pulmonary surfactant metabolism dysfunction 1 (SMDP1; MIM:265120), a rare lung disorder due to impaired surfactant homeostasis characterised by alveoli filling with floccular material. Excessive lipoprotein accumulation in the alveoli results in a form of respiratory distress syndrome in premature infants (RDS; MIM:267450) (Vorbroker et al. 1995, Li et al. 2004, Wert et al. 2009, Whitsett et al. 2015).

Literature References
PubMed ID Title Journal Year
7537464 Aberrant processing of surfactant protein C in hereditary SP-B deficiency

Vorbroker, DK, Profitt, SA, Nogee, LM, Whitsett, JA

Am. J. Physiol. 1995
19220077 Genetic disorders of surfactant dysfunction

Wert, SE, Whitsett, JA, Nogee, LM

Pediatr. Dev. Pathol. 2009
25621661 Diseases of pulmonary surfactant homeostasis

Whitsett, JA, Wert, SE, Weaver, TE

Annu Rev Pathol 2015
15049696 N-terminally extended surfactant protein (SP) C isolated from SP-B-deficient children has reduced surface activity and inhibited lipopolysaccharide binding

Li, J, Ikegami, M, Na, CL, Hamvas, A, Espinassous, Q, Chaby, R, Nogee, LM, Weaver, TE, Johansson, J

Biochemistry 2004
Participants
Participant Of
Disease
Name Identifier Synonyms
interstitial lung disease 3082 ILD
newborn respiratory distress syndrome 12716 Neonatal respiratory Distress syndrome, hyaline membrane disease, HMD - Hyaline membrane disease, pulmonary hypoperfusion syndrome of newborn, respiratory distress syndrome of newborn, pulmonary hyaline membrane disease
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