NDLI: Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

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Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

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Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Milhem, Reham M. Al-Gazali, Lihadh Ben-Salem, Salma Ali, Bassam R.
Description	Country affiliation: United Arab Emirates Author Affiliation: Milhem RM ( Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.); Ben-Salem S ( Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.); Al-Gazali L ( Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.); Ali BR ( Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.)
Abstract	PURPOSE: Fifteen missense mutations in the frizzled family receptor 4 (FZD4) reported to cause familial exudative vitreoretinopathy (FEVR) were evaluated to establish the pathological cellular mechanism of disease and to explore novel therapeutic strategies. METHODS: The mutations were generated by site-directed mutagenesis and expressed in HeLa and COS-7 cell lines. Confocal fluorescence microscopy and N-glycosylation profiling were used to observe the subcellular localization of the mutant proteins relative to wild-type (WT). Polyubiquitination studies were used to establish the involvement of the proteasome. Culturing at reduced temperatures and incubation in the presence of chemical compounds were used to enhance mutant protein processing and exit out of the endoplasmic reticulum (ER). RESULTS: Confocal fluorescence microscopy of the mutants showed three distinct subcellular localizations, namely, a plasma membrane pattern, an ER pattern, and a mixed pattern to both compartments. Confocal fluorescence microscopy and N-glycosylation profiling established the predominant ER localization of P33S, G36N, H69Y, M105T, M105V, C181R, C204R, C204Y, and G488D mutants. Coexpression of these mutants with WT FZD4 showed the inability of the mutants to trap WT FZD4. Culturing the expressing cells at reduced temperatures or in the presence of chemical agents directed at ameliorating protein misfolding resulted in partial rescue of trafficking defects observed for M105T and C204Y mutants. CONCLUSIONS: Defective trafficking resulting in haploinsufficiency is a major cellular mechanism for several missense FEVR-causing FZD4 mutants. Our findings indicate that this trafficking defect might be correctable for some mutants, which may offer opportunities for the development of novel therapeutics approaches for this condition.
ISSN	01460404
e-ISSN	15525783
Journal	Investigative Opthalmology & Visual Science
Issue Number	6
Volume Number	55
Language	English
Publisher	Association for Research in Vision and Ophthalmology
Publisher Date	2014-04-17
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Genetics Frizzled Receptors Gene Expression Regulation Mutation, Missense Vitreoretinopathy, Proliferative Vitreous Body Metabolism Animals Blotting, Western Cos Cells Cells, Cultured Cercopithecus Aethiops Dna Mutational Analysis Endoplasmic Reticulum Pathology Exudates And Transudates Biosynthesis Genotype Microscopy, Confocal Mutagenesis, Site-directed Protein Transport Research Support, Non-u.s. Gov't Discipline Ophthalmology
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Sensory Systems Cellular and Molecular Neuroscience

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