PuSH - Publikationsserver des Helmholtz Zentrums München: ER stress-mediated apoptosis in a new mouse model of <em>Osteogenesis imperfecta</em>.

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Lisse, T.S. ; Thiele, F. ; Fuchs, H. ; Hans, W. ; Przemeck, G.K.H. ; Abe, K. ; Rathkolb, B. ; Quintanilla-Martinez, L. ; Hölzlwimmer, G. ; Helfrich, M.* ; Wolf, E.* ; Ralston, S.H.* ; Hrabě de Angelis, M.

ER stress-mediated apoptosis in a new mouse model of Osteogenesis imperfecta.

PLoS Genet. 4:e7 (2008)

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Abstract
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Osteogenesis imperfecta is an inherited disorder characterized by increased bone fragility, fractures, and osteoporosis, and most cases are caused by mutations affecting the type I collagen genes. Here, we describe a new mouse model for Osteogenesis imperfecta termed Aga2 (abnormal gait 2) that was isolated from the Munich N-ethyl-N-nitrosourea mutagenesis program and exhibited phenotypic variability, including reduced bone mass, multiple fractures, and early lethality. The causal gene was mapped to Chromosome 11 by linkage analysis, and a C-terminal frameshift mutation was identified in the Col1a1 (procollagen type I, alpha 1) gene as the cause of the disorder. Aga2 heterozygous animals had markedly increased bone turnover and a disrupted native collagen network. Further studies showed that abnormal proalpha1(I) chains accumulated intracellularly in Aga2/+ dermal fibroblasts and were poorly secreted extracellularly. This was associated with the induction of an endoplasmic reticulum stress-specific unfolded protein response involving upregulation of BiP, Hsp47, and Gadd153 with caspases-12 and -3 activation and apoptosis of osteoblasts both in vitro and in vivo. These studies resulted in the identification of a new model for Osteogenesis imperfecta, and identified a role for intracellular modulation of the endoplasmic reticulum stress-associated unfolded protein response machinery toward osteoblast apoptosis during the pathogenesis of disease.

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