The ‘Human Molecular Genetics’ group from the University of Castilla-La Mancha (UCLM), formed by researchers Julio Escribano, Juan Manual Bonet, Susana Alexandre, José Daniel Aroca, María José Cabañero y Jesús Ferre, are leading an investigation that has discovered a new gene called GPATCH3; this gene controls the embryonic development of the eye, face and brain. The researchers have also found variations of the gene in some patients with congenital glaucoma that could be the cause of the illness. An article with the results of the study has recently been published in the ‘Scientific Reports’ magazine published by Nature.
The researchers from the regional university of Castilla-La Mancha explain that for the majority of the study the purpose of the gene GPATCH3 was unknown up until this point. With this study they have been able to identify mutations that increase the genes’ activity in some of the studied patients. The researchers point out, “the gene is expressed by eye tissue that takes part in the maintenance of the intraocular pressure and its function involves controlling the expression of other genes.” As this gene is present in the zebrafish, it has permitted the group to use this fish as a model for studying the function of the gene in a live animal. As stated by the researchers, “we have verified that this gene is also expressed in the eyes of the embryos of fish and in the cartilage of the jaw, brain, and other organs. When we decrease the expression of the fish’s gene we observe that the size of the eye reduces and the gene produces deformities in the region of the eye controlling intraocular pressure, as well as those of the cartilage of the jaw, and of the brain.”
The researchers additionally highlighted that this discovery thus implies an advance in the basic genetic knowledge of the ocular and craneo-facial development which has contributed to discovering genetic alterations in congenital glaucoma.
The discovery of this gene is a result of a genetic variation study conducted on a group of patients with congenital glaucoma. Consequently, the results of the study “can improve the diagnostics and genetic counselling of the illness.” This discovery has been made possible thanks to the work of the latest genomic analysis techniques and the zebrafish.
The investigation is conceived and directed by the ‘Human Molecular Genetics’ group in the Faculty of Medicine of Albacete/IDINE (UCLM), whose chief researcher is professor Julio Escribano. Other researchers also participated in the study including: researchers from the San Carlos Hospital Ophthalmology Service (Madrid), the Genetic Service at the ‘Jiménez Díaz’ Foundation (Madrid), the Spanish National Genotyping Centre (Barcelona), and Faculty of Medicine at the University of Yale (United States).
This study has been funded by the Carlos III Health Institute and has been developed within the thematic network of ocular pathology research (OFTARED), in which 19 research groups participate from all over Spain and have the support of the ‘Asociación de Glaucoma para Afectados y familiares (AGAF)’. The results of the research have been published by ‘Scientific Reports’ magazine published by Nature, found at the following link: http://rdcu.be/qZsz
Congenital glaucoma is a serious illness produced by an anomaly in the embryonic ocular development which serves to elevate ocular tension and lesions in the optic nerve, all of which produce a reduction or complete loss of vision.
Office of Communications UCLM, Albacete, april 19, 2017.