EHLERS-DANLOS IN THE DOG

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. A female Labrador retriever presented with clinical signs and histopathologic findings consistent with the Ehlers-Danlos syndrome (EDS). The skin was hyperextensible and tore easily with minimal trauma. Both hip joints were luxated early in life. Microscopic evaluation of skin was suggestive of EDS. Pedigree analysis was suggestive of a new autosomal dominant inheritance. We have recently bred the affected female to one of our normal males in an attempt to expand the colony. EDS is characterized by collagen fragility and can be due to a number of protein defects at this level. While some of the molecular defects have been elucidated in humans, to our knowledge none of them have been determined in dogs with EDS. The initial approach for this project is to characterize the EDS in the Labrador retriever. We have clinically evaluated the affected dogs and obtain skin biopsies for histopathology, electron microscopy, immunohistochemistry, and tissue culture. Ongoing immunohistochemical studies should be completed by the end of the summer of this year and with these results we should be able to begin sequencing the causative gene. The ultimate goal is to provide a large animal model with a genetic skin disease for gene therapy trials.