Bone fragility in transgenic mice expressing a mutated gene for type I procollagen (COL1A1) parallels the age-dependent phenotype of human osteogenesis imperfecta

2009 ◽  
Vol 10 (12) ◽  
pp. 1837-1843 ◽  
Author(s):  
Ruth F. Pereira ◽  
Eric L. Hume ◽  
Kenneth W. Halford ◽  
Darwin J. Prockop
Keyword(s):  
Transgenic Mice ◽  
Osteogenesis Imperfecta ◽  
Bone Fragility ◽  
Type I ◽  
Type I Procollagen ◽  
Age Dependent

scholarly journals Restoration of Osteogenesis by CRISPR/Cas9 Genome Editing of the Mutated COL1A1 Gene in Osteogenesis Imperfecta

2021 ◽  
Vol 10 (14) ◽  
pp. 3141
Author(s):  
Hyerin Jung ◽  
Yeri Alice Rim ◽  
Narae Park ◽  
Yoojun Nam ◽  
Ji Hyeon Ju
Keyword(s):  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
Disease Modeling ◽  
Bone Fragility ◽  
Osteogenic Potential ◽  
Type I ◽  
Gene Correction ◽  
Col1a1 Gene ◽  
Collagen Formation

Osteogenesis imperfecta (OI) is a genetic disease characterized by bone fragility and repeated fractures. The bone fragility associated with OI is caused by a defect in collagen formation due to mutation of COL1A1 or COL1A2. Current strategies for treating OI are not curative. In this study, we generated induced pluripotent stem cells (iPSCs) from OI patient-derived blood cells harboring a mutation in the COL1A1 gene. Osteoblast (OB) differentiated from OI-iPSCs showed abnormally decreased levels of type I collagen and osteogenic differentiation ability. Gene correction of the COL1A1 gene using CRISPR/Cas9 recovered the decreased type I collagen expression in OBs differentiated from OI-iPSCs. The osteogenic potential of OI-iPSCs was also recovered by the gene correction. This study suggests a new possibility of treatment and in vitro disease modeling using patient-derived iPSCs and gene editing with CRISPR/Cas9.

scholarly journals Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

2011 ◽  
Vol 20 (8) ◽  
pp. 1595-1609 ◽  
Author(s):  
Shawna M. Pyott ◽  
Ulrike Schwarze ◽  
Helena E. Christiansen ◽  
Melanie G. Pepin ◽  
Dru F. Leistritz ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Type I ◽  
Cyclophilin B ◽  
Type I Procollagen

Specific and selective inhibition of translation of mRNA for type II procollagen in cells of transgenic mice that synthesize type I procollagen. A possible role for endogneous antisense RNA

1996 ◽  
Vol 15 (3) ◽  
pp. 203-210
Author(s):  
Leena Ala-Kokko ◽  
Constance Yuan ◽  
Dominique Le Guellec ◽  
Suzanne Franc ◽  
Andrzej Fertala ◽  
...  
Keyword(s):  
Transgenic Mice ◽  
Antisense Rna ◽  
Selective Inhibition ◽  
Type I ◽  
Type Ii ◽  
Type I Procollagen ◽  
In Cells
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