title: Alternative splicing of SMPD1 in human sepsis.
abstract: Acid sphingomyelinase (ASM or sphingomyelin phosphodiesterase, SMPD) activity engages a critical role for regulation of immune response and development of organ failure in critically ill patients. Beside genetic variation in the human gene encoding ASM (SMPD1), alternative splicing of the mRNA is involved in regulation of enzymatic activity. Here we show that the patterns of alternatively spliced SMPD1 transcripts are significantly different in patients with systemic inflammatory response syndrome and severe sepsis/septic shock compared to control subjects allowing discrimination of respective disease entity. The different splicing patterns might contribute to the better understanding of the pathophysiology of human sepsis.
authors.affiliation: Integrated Research and Treatment Center, Center for Sepsis Control and Care (CSCC), Jena University Hospital, Jena, Germany; Genome Analysis, Leibniz Institute for Age Research-Fritz Lipmann Institute, Jena, Germany.
authors.forename: Marcel
authors.initials: M
authors.lastname: Kramer
authors.affiliation: Integrated Research and Treatment Center, Center for Sepsis Control and Care (CSCC), Jena University Hospital, Jena, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Quickert
authors.affiliation: Department of Anesthesiology and Intensive Care Therapy, Jena University Hospital, Jena, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Sponholz
authors.affiliation: Hans Knöll Institute for Natural Product Research and Infection Biology, Leibniz Institute, Jena, Germany.
authors.forename: Uwe
authors.initials: U
authors.lastname: Menzel
authors.affiliation: Genome Analysis, Leibniz Institute for Age Research-Fritz Lipmann Institute, Jena, Germany.
authors.forename: Klaus
authors.initials: K
authors.lastname: Huse
authors.affiliation: Genome Analysis, Leibniz Institute for Age Research-Fritz Lipmann Institute, Jena, Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Platzer
authors.affiliation: Integrated Research and Treatment Center, Center for Sepsis Control and Care (CSCC), Jena University Hospital, Jena, Germany; Department of Anesthesiology and Intensive Care Therapy, Jena University Hospital, Jena, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Bauer
authors.affiliation: Integrated Research and Treatment Center, Center for Sepsis Control and Care (CSCC), Jena University Hospital, Jena, Germany; Department of Anesthesiology and Intensive Care Therapy, Jena University Hospital, Jena, Germany.
authors.forename: Ralf A
authors.initials: RA
authors.lastname: Claus
mesh_terms: D000368:Aged; D017398:Alternative Splicing; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000235:genetics / Q000378:metabolism; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D018805:Sepsis / Q000201:enzymology* / Q000235:genetics; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics* / Q000378:metabolism
chemical_list: D007527:Isoenzymes; C543066:SMPD1 protein, human; D013108:Sphingomyelin Phosphodiesterase