Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-01-14

AUTHORS

Heidi M Sampson, Hung Lam, Pei-Chun Chen, Donglei Zhang, Cristina Mottillo, Myriam Mirza, Karim Qasim, Alvin Shrier, Show-Ling Shyng, John W Hanrahan, David Y Thomas

ABSTRACT

BackgroundMany genetic diseases are due to defects in protein trafficking where the mutant protein is recognized by the quality control systems, retained in the endoplasmic reticulum (ER), and degraded by the proteasome. In many cases, the mutant protein retains function if it can be trafficked to its proper cellular location. We have identified structurally diverse correctors that restore the trafficking and function of the most common mutation causing cystic fibrosis, F508del-CFTR. Most of these correctors do not act directly as ligands of CFTR, but indirectly on other pathways to promote folding and correction. We hypothesize that these proteostasis regulators may also correct other protein trafficking diseases.MethodsTo test our hypothesis, we used stable cell lines or transient transfection to express 2 well-studied trafficking disease mutations in each of 3 different proteins: the arginine-vasopressin receptor 2 (AVPR2, also known as V2R), the human ether-a-go-go-related gene (KCNH2, also known as hERG), and finally the sulfonylurea receptor 1 (ABCC8, also known as SUR1). We treated cells expressing these mutant proteins with 9 structurally diverse F508del-CFTR correctors that function through different cellular mechanisms and assessed whether correction occurred via immunoblotting and functional assays. Results were deemed significantly different from controls by a one-way ANOVA (p < 0.05).ResultsHere we show that F508del-CFTR correctors RDR1, KM60 and KM57 also correct some mutant alleles of other protein trafficking diseases. We also show that one corrector, the cardiac glycoside ouabain, was found to alter the glycosylation of all mutant alleles tested.ConclusionsCorrectors of F508del-CFTR trafficking might have broader applications to other protein trafficking diseases. More... »

PAGES

11

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1750-1172-8-11

DOI

http://dx.doi.org/10.1186/1750-1172-8-11

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PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23316740


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64 functional assays
65 genes
66 genetic diseases
67 glycoside ouabain
68 glycosylation
69 human ether
70 hypothesis
71 ligands
72 lines
73 location
74 mechanism
75 mutant alleles
76 mutant proteins
77 mutations
78 one-way ANOVA
79 ouabain
80 pathway
81 proper cellular location
82 proteasome
83 protein
84 protein trafficking
85 proteostasis regulators
86 quality control system
87 receptor 1
88 receptor 2
89 regulator
90 results
91 reticulum
92 stable cell lines
93 study
94 sulfonylurea receptor 1
95 system
96 trafficking
97 transfection
98 transient transfection
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