Molecular basis of osteogenesis imperfecta and related disorders of bone.
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abstract
Recent work has demonstrated that more than 90% of patients with osteogenesis imperfecta (OI) have mutations in the gene for either the pro alpha 1 (I) chain or the gene for the pro alpha 2 (I) chain of type I procollagen. Three molecular mechanisms have explained the devastating effects of these mutations. In addition, the data provide several general conclusions about mutations in collagen genes. Studies in cell cultures with antisense oligonucleotides and studies in transgenic mice with an antisense gene raised the possibility that several strategies eventually may be developed to treat OI by converting severe forms of the disease to milder forms.