Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin

Blood. 2011 Sep 22;118(12):3384-91. doi: 10.1182/blood-2011-05-352815. Epub 2011 Jul 27.

Abstract

The type 1-transmembrane protein LMAN1 (ERGIC-53) forms a complex with the soluble protein MCFD2 and cycles between the endoplasmic reticulum (ER) and the ER-Golgi intermediate compartment (ERGIC). Mutations in either LMAN1 or MCFD2 cause the combined deficiency of factor V (FV) and factor VIII (FVIII; F5F8D), suggesting an ER-to-Golgi cargo receptor function for the LMAN1-MCFD2 complex. Here we report the analysis of LMAN1-deficient mice. Levels of plasma FV and FVIII, and platelet FV, are all reduced to ∼ 50% of wild-type in Lman1(-/-) mice, compared with the 5%-30% levels typically observed in human F5F8D patients. Despite previous reports identifying cathepsin C, cathepsin Z, and α1-antitrypsin as additional potential cargoes for LMAN1, no differences were observed between wild-type and Lman1(-/-) mice in the levels of cathepsin C and cathepsin Z in liver lysates or α1-antitrypsin levels in plasma. LMAN1 deficiency had no apparent effect on COPII-coated vesicle formation in an in vitro assay. However, the ER in Lman1(-/-) hepatocytes is slightly distended, with significant accumulation of α1-antitrypsin and GRP78. An unexpected, partially penetrant, perinatal lethality was observed for Lman1(-/-) mice, dependent on the specific inbred strain genetic background, suggesting a potential role for other, as yet unidentified LMAN1-dependent cargo proteins.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Biological Transport
  • Blood Coagulation Disorders / genetics
  • Blood Coagulation Disorders / metabolism*
  • Blood Coagulation Disorders / pathology
  • COP-Coated Vesicles / metabolism
  • Cathepsin C / genetics
  • Cathepsin C / metabolism
  • Cathepsin Z / genetics
  • Cathepsin Z / metabolism
  • Endoplasmic Reticulum / metabolism
  • Endoplasmic Reticulum Chaperone BiP
  • Factor V / genetics
  • Factor V / metabolism*
  • Factor V Deficiency / blood*
  • Factor V Deficiency / genetics
  • Factor VIII / genetics
  • Factor VIII / metabolism*
  • Genotype
  • Golgi Apparatus / metabolism
  • Heat-Shock Proteins / genetics
  • Heat-Shock Proteins / metabolism
  • Hepatocytes / metabolism*
  • Hepatocytes / pathology
  • Humans
  • Liver / metabolism
  • Liver / pathology
  • Mannose-Binding Lectins* / deficiency
  • Mannose-Binding Lectins* / genetics
  • Membrane Proteins* / deficiency
  • Membrane Proteins* / genetics
  • Mice
  • Mice, Knockout
  • Mutation
  • alpha 1-Antitrypsin / genetics
  • alpha 1-Antitrypsin / metabolism

Substances

  • ERGIC-53 protein, mouse
  • Endoplasmic Reticulum Chaperone BiP
  • HSPA5 protein, human
  • Heat-Shock Proteins
  • Hspa5 protein, mouse
  • Mannose-Binding Lectins
  • Membrane Proteins
  • alpha 1-Antitrypsin
  • Factor V
  • Factor VIII
  • Cathepsin C
  • Cathepsin Z