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Human and Mouse Models Suggest that Subclinical Defects of Wound Healing Contribute to Oculodentodigital Dysplasia (ODDD)

It is important to confirm a pathogenic mutation by functional assay. Identification of the underlying molecular and cellular mechanism of the disease with both human and animal models is even more exciting. In this issue, Churko et al. (Hum Mutat 32:456-466, 2011) conducted an excellent study offering some new insights into oculodentodigital dysplasia (ODDD) and the role of connexin 43 (Cx43) and wound healing. They connected their discoveries from primary human cells to validated animal models for ODDD. ODDD is a mostly autosomal dominant rare inherited disease affecting the development of multiple tissues and organs. Some major clinical features include syndactyly, camptodactyly, craniofacial abnormalities, enamel loss and microdontia. Other less common features include glaucoma, progressive spastic paraparesis, and neurogenic bladder as well as heart and skin diseases. Since the discovery that ODDD was specifically linked to mutations in the GJA1 gene encoding Cx43, people have been wondering how Cx43 mutants lead to disease. The in vitro studies of over-expression cannot ideally mimic the human condition due to the difficulty in expressing Cx43 mutants and the wild-type Cx43 counterparts at the right 1:1 ratio expected to be found in ODDD patients. Mouse models of ODDD offer a powerful tool for research but it remains that the right human model is needed to confirm the findings. Indeed, Churko et al. have shown us the power and beauty of these models and their applicability to the human condition.