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Generalized connective tissue disease in Crtap-/- mouse.

Dustin Baldridge1, Jennifer Lennington, MaryAnn Weis

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.

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|May 21, 2010
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Summary

Mutations in cartilage-associated protein (CRTAP) and prolyl 3-hydroxylase 1 (P3H1) disrupt collagen formation, causing osteogenesis imperfecta and multi-system connective tissue disease affecting bones, lungs, kidneys, and skin.

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Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Mutations in CRTAP, LEPRE1 (P3H1), or PPIB cause recessive osteogenesis imperfecta (OI).
  • These mutations lead to reduced type I collagen prolyl 3-hydroxylation.
  • CRTAP and P3H1 are crucial for collagen homeostasis.

Purpose of the Study:

  • To comprehensively analyze the phenotype of Crtap-/- mice.
  • To investigate the cellular and molecular mechanisms underlying CRTAP and P3H1 function.
  • To understand the systemic effects of impaired collagen hydroxylation.

Main Methods:

  • Phenotypic analysis of Crtap-/- mice.
  • Histological examination of lung, kidney, and skin tissues.
  • Analysis of collagen chain hydroxylation.
  • Cellular studies using human OI fibroblasts.

Main Results:

  • Crtap-/- mice exhibit multi-tissue abnormalities (lung, kidney, skin) indicating systemic collagen dysregulation.
  • Increased cellular proliferation in Crtap-/- lung and kidney glomeruli.
  • Altered lung histology and kidney segmental glomerulosclerosis with abnormal collagen deposition.
  • Decreased mechanical integrity of Crtap-/- skin.
  • Loss of 3-hydroxylation at specific proline sites in collagen chains (I, II, V), with normal hydroxylation at some alpha1(IV) sites.
  • Loss of CRTAP leads to secondary loss of P3H1 in human fibroblasts, and vice versa.

Conclusions:

  • CRTAP and P3H1 form a complex essential for hydroxylating proline sites in clade A collagen chains (types I, II, V).
  • Loss of this complex activity results in a multi-systemic connective tissue disorder.
  • This impacts bone, cartilage, lung, kidney, and skin integrity.