Cole/Hamvas Lab
Genetic regulation of neonatal pulmonary surfactant deficiency has been suggested by studies of gender,genetic linkage, recurrent familial cases, gene knockout models in mice, and by racial disparity in risk of neonatal respiratory distress syndrome (RDS). Successful fetal-neonatal pulmonary transition requires production of the pulmonary surfactant, a phospholipid-protein film that lines alveoli and maintains alveolar patency at end expiration. Our goal is to understand the genetic mechanisms that disrupt pulmonary surfactant metabolism and cause neonatal respiratory distress syndrome.
To understand these genetic mechanisms, we are investigating the association of genetic variation in several genes where mutations cause lethal surfactant deficiency (SFTPB, SFTPC, and ABCA3), as well as other genes involved in pulmonary surfactant synthesis, transport, and catabolism, the unfolded protein response, and fluid homeostasis, to RDS.
We employ state of the art technologies such as Sanger and next generation sequencing, multidimensional protein identification, in vivo metabolic labeling with stable isotopically labeled precursors, and cell culture/transfections systems.
Improved understanding of genetic regulation of surfactant deficiency will suggest novel diagnostic strategies that identify and categorize high risk infants and therapeutic strategies that target discrete steps in pulmonary surfactant metabolism to improve outcomes of infants with neonatal respiratory distress syndrome.
Contact us:
MPRB 5th floor Entry 6
4938 Parkview Place
St. Louis, MO. 63110
(314) 286-2866