Endoplasmic reticulum stress in human photoreceptor diseases

Abstract Photoreceptors are specialized sensory neurons essential for light detection in the human eye. Photoreceptor cell dysfunction and death cause vision loss in many eye diseases such as retinitis pigmentosa and achromatopsia. Endoplasmic reticulum (ER) stress and Unfolded Protein Response (UPR...

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Bibliographic Details
Published in:Brain research 2016-10, Vol.1648 (Pt B), p.538-541
Main Authors: Chan, Priscilla, Stolz, Julia, Kohl, Susanne, Chiang, Wei-Chieh, Lin, Jonathan H
Format: Article
Language:English
Subjects:
Achromatopsia
Activating Transcription Factor 6 - genetics
ATF6
Endoplasmic Reticulum Stress - genetics
Endoplasmic Reticulum Stress - physiology
Humans
Mutation - genetics
Neurology
Photoreceptor
Photoreceptor Cells, Vertebrate - pathology
Photoreceptor Cells, Vertebrate - physiology
Retina
Retinal Diseases - genetics
Retinal Diseases - pathology
Retinal Diseases - physiopathology
Retinitis pigmentosa
Rhodopsin
Unfolded Protein Response - genetics
Unfolded Protein Response - physiology
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Summary:Abstract Photoreceptors are specialized sensory neurons essential for light detection in the human eye. Photoreceptor cell dysfunction and death cause vision loss in many eye diseases such as retinitis pigmentosa and achromatopsia. Endoplasmic reticulum (ER) stress and Unfolded Protein Response (UPR) signaling have been implicated in the development and pathology of heritable forms of retinitis pigmentosa and achromatopsia. We review the role of ER stress and UPR in retinitis pigmentosa arising from misfolded rhodopsins (RHO) and in achromatopsia arising from genetic mutations in Activating Transcription Factor 6 (ATF6).
ISSN:0006-8993
1872-6240
DOI:10.1016/j.brainres.2016.04.021