A study by University College Dublin researchers has identified a mutation in the emc1 gene that causes significant vision impairment in zebrafish. This discovery sheds light on the role of the emc1 gene in retinal health and may contribute to understanding inherited retinal diseases in humans.
Researchers in University College Dublin (UCD) have discovered that a mutation in a gene called emc1 causes major vision problems in zebrafish. Zebrafish with this mutation had poorly developed eye cells, weaker responses to light, and changes in the normal structure of their retinas. These tiny, tropical fish are used as a tool to find novel genes that cause inherited blindness and help find better treatments for inherited retinal blindness.
The team artificially created mutations randomly across the genome of the zebrafish. The offspring of these zebrafish were then screened for the characteristics of blindness. One of the zebrafish families identified by the team carries a mutation in the emc1 gene which they are initially calling the 'raifteirí' (raf) zebrafish after the 18th century blind Irish poet Antoine Ó Raifteirí. Describing the key findings of the study, postdoctoral researcher Dr Tess McCann explains, 'The raf zebrafish didn't react to visual tests and had major vision problems. The eye cells in these zebrafish were thinner and had unusual shapes. Genes needed to help the eye process light signals weren't working as they should. Our research shows the vital role of Emc1 in vision and lays the groundwork for exploring potential solutions to its dysfunction.' The emc1 gene is crucial for the proper functioning of the endoplasmic reticulum, which is a part of the cell involved in protein production and transport. This study highlights the role of emc1 gene in retinal health and provides insights into how mutations in this gene can lead to inherited retinal diseases. Inherited retinal diseases are rare eye conditions that lead to progressive vision loss due to the degeneration of cells in the retina, the light-sensitive layer at the back of the eye. Over 300 genes have been identified in patients but it is often unclear how the mutations cause sight los
Genetics Zebrafish Vision Inherited Retinal Diseases Emc1 Gene
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