Fibrillins 1 and 2 perform partially overlapping functions during aortic development

J Biol Chem. 2006 Mar 24;281(12):8016-23. doi: 10.1074/jbc.M511599200. Epub 2005 Dec 28.

Abstract

Fibrillin-rich microfibrils are extracellular assemblies that impart structural properties to the connective tissue. To elucidate the contribution of fibrillin-rich microfibrils to organogenesis, we have examined the vascular phenotype of a newly created strain of mice that completely lacks fibrillin-1 and the consequences of combined deficiency of fibrillins 1 and 2 on tissue formation. The results demonstrated that fibrillins 1 and 2 perform partially overlapping functions during aortic development. Fbn1-/- mice died soon after birth from ruptured aortic aneurysm, impaired pulmonary function, and/or diaphragmatic collapse. Analysis of the neonatal Fbn1-/- aorta documented a disorganized and poorly developed medial layer but normal levels of elastin cross-links. Transcriptional profiling revealed that aneurysm progression in Fbn1 null mice is accompanied by unproductive up-regulation of gene products normally involved in tissue repair and vascular integrity, such as plasminogen activator inhibitor-1, activin A, and cysteine-rich angiogenic protein 61. In contrast to Fbn1-/- mice, Fbn2 null mice had a well developed and morphologically normal aortic wall. However, virtually all Fbn1-/-;Fbn2-/- embryos and about half of the Fbn1+/-;Fbn2-/- embryos died in utero and displayed a significantly more severe vascular phenotype than Fbn1-/- mice. Consistent with a specialized function of fibrillin-2, electron microscopy visualized ultrastructurally different microfibrils in Fbn1 null compared with control cell cultures. Collectively, these data demonstrate that involvement of fibrillin-2 in the initial assembly of the aortic matrix overlaps in part with fibrillin-1 and that continued fibrillin-1 deposition is absolutely required for the maturation and function of the vessel during neonatal life.

Publication types

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

MeSH terms

  • Activins / metabolism
  • Alleles
  • Animals
  • Aorta / embryology*
  • Cells, Cultured
  • Contractile Proteins / metabolism
  • Cross-Linking Reagents / pharmacology
  • Crosses, Genetic
  • Cysteine-Rich Protein 61
  • Desmosine / metabolism
  • Elastin / metabolism
  • Fibrillin-1
  • Fibrillin-2
  • Fibrillins
  • Fibroblasts / metabolism
  • Genotype
  • Heterozygote
  • Immediate-Early Proteins / metabolism
  • Immunoblotting
  • Inhibin-beta Subunits / metabolism
  • Intercellular Signaling Peptides and Proteins / metabolism
  • Mice
  • Mice, Transgenic
  • Microfibrils / chemistry
  • Microfilament Proteins / chemistry*
  • Microfilament Proteins / metabolism
  • Microscopy, Electron
  • Models, Genetic
  • Phenotype
  • Plasminogen Activator Inhibitor 1 / metabolism
  • RNA / metabolism

Substances

  • CCN1 protein, human
  • Contractile Proteins
  • Cross-Linking Reagents
  • Cysteine-Rich Protein 61
  • FBN1 protein, human
  • FBN2 protein, human
  • Fbn1 protein, mouse
  • Fbn2 protein, mouse
  • Fibrillin-1
  • Fibrillin-2
  • Fibrillins
  • Immediate-Early Proteins
  • Intercellular Signaling Peptides and Proteins
  • Microfilament Proteins
  • Plasminogen Activator Inhibitor 1
  • activin A
  • Activins
  • Desmosine
  • RNA
  • Elastin
  • Inhibin-beta Subunits