Inhibiting autophagy reduces retinal degeneration caused by protein misfolding

References

• RetNet – retinal information network. Accepted on 18 September 2017. Available from: https://sph.uth.edu/retnet/
   Google Scholar
• Liu X, Garriga P, Khorana HG. Structure and function in rhodopsin: correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa. Proc Nat Acad Sci USA. 1996;93:4554–4559.
   PubMed Web of Science ®Google Scholar
• Garriga P, Liu X, Khorana HG. Structure and function in rhodopsin: correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation Leu-125–>arg in the transmembrane helix C. Proc Natl Acad Sci USA. 1996;93:4560–4564.
   PubMed Web of Science ®Google Scholar
• Saliba RS, Munro PM, Luthert PJ, et al. The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation. J Cell Sci. 2002;115:2907–2918.
   PubMed Web of Science ®Google Scholar
• Sohocki MM, Daiger SP, Browne SJ, et al. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17:42–51.
   PubMed Web of Science ®Google Scholar
• Illing ME, Rajan RS, Bence NF, et al. A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system. J Biol Chem. 2002;277:34150–34160.
   PubMed Web of Science ®Google Scholar
• Tam BM, Moritz OL. Characterization of rhodopsin P23H-induced retinal degeneration in a Xenopus laevis model of retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2006;47:3234–3241.
   PubMed Web of Science ®Google Scholar
• Sakami S, Maeda T, Bereta G, et al. Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations. J Biol Chem. 2011;286:10551–10567.
   PubMed Web of Science ®Google Scholar
• Sizova OS, Shinde VM, Lenox AR, et al. Modulation of cellular signaling pathways in P23H rhodopsin photoreceptors. Cell Signal. 2014;26:665–672.
   PubMed Web of Science ®Google Scholar
• Chiang WC, Kroeger H, Sakami S, et al. Robust endoplasmic reticulum-associated degradation of rhodopsin precedes retinal degeneration. Mol Neurobiol. 2015;52:679–695.
   PubMed Web of Science ®Google Scholar
• Ganguly G, Chakrabarti S, Chatterjee U, et al. Proteinopathy, oxidative stress and mitochondrial dysfunction: cross talk in Alzheimer’s disease and Parkinson’s disease. Drug Des Devel Ther. 2017 Mar;16(11):797–810.
   Google Scholar
• Pisoni GB, Molinari M. Five questions (with their answers) on ER-associated degradation. Traffic. 2016;17:341–350.
   PubMed Web of Science ®Google Scholar
• Mohlin C, Taylor L, Ghosh F, et al. Autophagy and ER-stress contribute to photoreceptor degeneration in cultured adult porcine retina. Brain Research. 2014;1585:167–183.
   PubMed Web of Science ®Google Scholar
• Mendes HF, Cheetham ME. Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa. Hum Mol Genet. 2008;17:3043–3054.
   PubMed Web of Science ®Google Scholar
• Senft D, Ronai ZA. UPR, autophagy, and mitochondria crosstalk underlies the ER stress response. Trend Biochem Sci. 2015;40:141–148.
   PubMed Web of Science ®Google Scholar
• Cai Y, Arikkath J, Yang L, et al. Interplay of endoplasmic reticulum stress and autophagy in neurodegenerative disorders. Autophagy. 2016;12:225–244.
   PubMed Web of Science ®Google Scholar
• Yao J, Jia L, Shelby SJ, et al. Circadian and noncircadian modulation of autophagy in photoreceptors and retinal pigment epithelium. Invest Ophthalmol Vis Sci. 2014;55:3237–3246.
   PubMed Web of Science ®Google Scholar
• Zhou Z, Doggett TA, Sene A, et al. Autophagy supports survival and phototransduction protein levels in rod photoreceptors. Cell Death Differ. 2015;22:488–489.
   PubMed Web of Science ®Google Scholar
• Mizushima N, Kuma A. Autophagosomes in GFP-LC3 transgenic mice. Meth Mol Biol. 2008;445:119–124.
   PubMedGoogle Scholar
• Uchiyama Y. Autophagic cell death and its execution by lysosomal cathepsins. Arch Histol Cytol. 2001;64:233–246.
   PubMed Web of Science ®Google Scholar
• Matsumoto G, Wada K, Okuno M, et al. Serine 403 phosphorylation of p62/SQSTM1 regulates selective autophagic clearance of ubiquitinated proteins. Mol Cell. 2011;44:279–289.
   PubMed Web of Science ®Google Scholar
• Yao J, Jia L, Feathers K, et al. Autophagy-mediated catabolism of visual transduction proteins prevents retinal degeneration. Autophagy. 2016;12:2439–2450.
   PubMed Web of Science ®Google Scholar
• Hartford CM, Ratain MJ. Rapamycin: something old, something new, sometimes borrowed and now renewed. Clin Pharmacol Ther. 2007;82:381–388.
   PubMed Web of Science ®Google Scholar
• Klionsky DJ, Abdelmohsen K, Abe A, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016;11:939–953.
   Google Scholar
• Viringipurampeer IA, Metcalfe AL, Bashar AE, et al. NLRP3 inflammasome activation drives bystander cone photoreceptor cell death in a P23H rhodopsin model of retinal degeneration. Hum Mol Genet. 2016;25:1501–1516.
   PubMed Web of Science ®Google Scholar
• Comitato A, Di Salvo MT, Turchiano G, et al. Dominant and recessive mutations in rhodopsin activate different cell death pathways. Hum Mol Genet. 2016;25:2801–2812.
   PubMed Web of Science ®Google Scholar
• Margariti A, Li H, Chen T, et al. XBP1 mRNA splicing triggers an autophagic response in endothelial cells through BECLIN-1 transcriptional activation. J Biol Chem. 2013;288:859–872.
   PubMed Web of Science ®Google Scholar
• Lobanova ES, Finkelstein S, Skiba NP, et al. Proteasome overload is a common stress factor in multiple forms of inherited retinal degeneration. Proc Natl Acad Sci USA. 2013;110:9986–9991.
   PubMed Web of Science ®Google Scholar
• Minina EA, Moschou PN, Bozhkov PV. Limited and digestive proteolysis: crosstalk between evolutionary conserved pathways. New Phytol. 2017;215:958–964.
   PubMed Web of Science ®Google Scholar
• Wemheuer WM, Wrede A, Schulz-Schaeffer WJ. Types and strains: their essential role in understanding protein aggregation in neurodegenerative diseases. Front Aging Neurosci. 2017;9:187. eCollection 2017.
   PubMed Web of Science ®Google Scholar
• Remondelli P, Renna M. The endoplasmic reticulum unfolded protein response in neurodegenerative disorders and its potential therapeutic significance. Front Mol Neurosci. 2017;10:187. eCollection 2017.
   PubMed Web of Science ®Google Scholar
• Rubinsztein DC, Gestwicki JE, Murphy LO, et al. Potential therapeutic applications of autophagy. Nat Rev Drug Discov. 2007;6:304–312.
   PubMed Web of Science ®Google Scholar
• Chinskey ND, Besirli CG, Zacks DN. Retinal cell death and current strategies in retinal neuroprotection. Curr Opin Ophthalmol. 2014;25:228–233.
   PubMed Web of Science ®Google Scholar
• Galluzzi L, Bravo-San Pedro JM, Vitale I, et al. Essential versus accessory aspects of cell death: recommendations of the NCCD 2015. Cell Death Differ. 2015;22:58–73.
   PubMed Web of Science ®Google Scholar
• Galluzzi L, Vitale I, Abrams JM, et al. Molecular definitions of cell death subroutines: recommendations of the Nomenclature Committee on Cell Death 2012. Cell Death Differ. 2012;19:107–120.
   PubMed Web of Science ®Google Scholar
• Giansanti V, Rodriguez GE, Savoldelli M, et al. Characterization of stress response in human retinal epithelial cells. J Cell Mol Med. 2013;17:103–115.
   PubMed Web of Science ®Google Scholar
• Murakami Y, Notomi S, Hisatomi T, et al. Photoreceptor cell death and rescue in retinal detachment and degenerations. Prog Retin Eye Res. 2013;37:114–140.
   PubMed Web of Science ®Google Scholar
• Park HY, Kim JH, Park CK. Activation of autophagy induces retinal ganglion cell death in a chronic hypertensive glaucoma model. Cell Death Dis. 2012;3:e290.
   PubMed Web of Science ®Google Scholar
• Piras A, Gianetto D, Conte D, et al. Activation of autophagy in a rat model of retinal ischemia following high intraocular pressure. PLoS One. 2011;6(7):e22514.
   PubMed Web of Science ®Google Scholar
• Chiang WC, Messah C, Lin JH. IRE1 directs proteasomal and lysosomal degradation of misfolded rhodopsin. Mol Biol Cell. 2012 Mar;23(5):758–770.
   PubMed Web of Science ®Google Scholar
• Mattapallil MJ, Wawrousek EF, Chan CC, et al. The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes. Invest Ophthalmol Vis Sci. 2012;53:2921–2927.
   PubMed Web of Science ®Google Scholar
• Lewis MD, Pfeil J, Mueller AK. Continuous oral chloroquine as a novel route for Plasmodium prophylaxis and cure in experimental murine models. BMC Res Notes. 2011;4:262.
   PubMedGoogle Scholar
• Cook KL, Wärri A, Soto-Pantoja DR, et al. Hydroxychloroquine inhibits autophagy to potentiate antiestrogen responsiveness in ER+ breast cancer. Clin Cancer Res. 2014;20:3222–3232.
   PubMed Web of Science ®Google Scholar
• Yao J, Jia L, Khan N, et al. Deletion of autophagy inducer RB1CC1 results in degeneration of the retinal pigment epithelium. Autophagy. 2015;11:939–953.
   PubMed Web of Science ®Google Scholar
• Powell SR, Davies KJ, Divald A. Optimal determination of heart tissue 26S-proteasome activity requires maximal stimulating ATP concentrations. J Mol Cell Cardiol. 2007;42:265–269.
   PubMed Web of Science ®Google Scholar