Professor Hannes Lohi's research group at the University of Helsinki in Finland has discovered three novel canine genes for Caffey, Raine, and van den Ende-Gupta syndromes. Research reveals close similarities of the canine models of human rare disorders and highlights the potential of comparative research approach for the development of rare disease diagnostics and treatments. Gene discoveries will also benefit veterinary diagnostics and breeding programs. The study was published in the open-access journal PLOS Genetics on May 17, 2016. The article is titled “Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, Ende-Gupta, and Raine Syndromes.” Genetic research in dogs revealed the causes of hyperostosis in Terrier breeds, dental hypomineralization in Border Collie, and previously undescribed skeletal syndrome in Wire Fox Terriers. The latter two syndromes were described for the first time in this study. Hyperostosis in Terriers has been described before, but the genetic cause was found here. Gene discoveries helped to identify and name the conditions and link them to human rare disorders. The study unraveled a novel candidate gene for human Caffey disease, a condition that causes facial swelling and other symptoms. Gene discovery for canine craniomandibular osteopathy (CMO) is of particular interest. The disease is known as infantile hyperostosis in human and belongs to a group of self-limiting and difficult-to-diagnose swelling syndromes. The group found a novel physiologically relevant candidate gene, SLC37A2, and have initiated mutation screenings in human Caffey patients, explains lead author, Marjo Hytönen., Ph.D. SLC37A2 is a glucose-phosphate transporter, and its defect suggests an impaired glucose homeostasis in developing bone, leading to hyperostosis.
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