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Not So Hot Rods: Mutations in Rhodopsin Kinase in Regards to Oguchi Disease

Authors :
C Wilkins
L Krupski
J Bade
A Kellicut
J Killoren
L Semler
C Czerniak
Mark Arnholt
S Daley
Melissa Wilk
Source :
The FASEB Journal. 29
Publication Year :
2015
Publisher :
Wiley, 2015.

Abstract

The average person's eyes adapt to darkness within minutes. For those with Oguchi's disease, adaptation can be slowed to several hours. Oguchi disease is an autosomal recessive disorder that results in greatly slowed phototransduction. Phototransduction is a cascade reaction beginning with a photon activating rhodopsin in the rod and leading to hyperpolarization of the cell. Oguchi disease is caused by mutations in rhodopsin kinase which prevent the phosphorylation of rhodopsin, lowering rhodopsin's affinity for arrestin. This reduced ability to bind arrestin decreases the speed in which rhodopsin is deactivated and prepped to reactivate. After a long period in a dark environment, the rhodopsin is eventually deactivated by arrestin, allowing it to be recycled. The Hartford Union High School SMART (Students Modelling a Research Topic) Team has designed a model of rhodopsin kinase to investigate its structure-function relationship. Oguchi disease can be caused by two different mutations in rhodopsin kinase:...

Details

ISSN :
15306860 and 08926638
Volume :
29
Database :
OpenAIRE
Journal :
The FASEB Journal
Accession number :
edsair.doi...........e155f32d942ae745aef0317ccf3a79bc
Full Text :
https://doi.org/10.1096/fasebj.29.1_supplement.lb63