Variants of the Myocilin Gene in Japanese Patients with Normal-Tension Glaucoma
| Autor: | Yasuhiko Tanaka, Takeshi Iwata, Hiroshi Miyata, Qiang Zhang, Minoru Obazawa, Yukihiko Mashima, Yoshihisa Oguchi, Yuichiro Ohtake, K. Izumi, Tomihiko Tanino |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Male
genetic structures Blotting Western DNA Mutational Analysis Mutant Gene Expression Biology Transfection medicine.disease_cause Cellular and Molecular Neuroscience Polymorphism (computer science) Normal tension glaucoma Chlorocebus aethiops medicine Animals Humans RNA Messenger Eye Proteins Gene Intraocular Pressure Myocilin Glycoproteins Genetics Mutation Polymorphism Genetic Reverse Transcriptase Polymerase Chain Reaction Nucleic acid sequence Wild type Genetic Variation General Medicine Middle Aged eye diseases Sensory Systems Cytoskeletal Proteins Ophthalmology COS Cells Electrophoresis Polyacrylamide Gel Female sense organs Glaucoma Open-Angle |
| Zdroj: | Ophthalmic Research. 35:345-350 |
| ISSN: | 1423-0259 0030-3747 |
| Popis: | Myocilin (MYOC) mutations are associated with juvenile- and adult-onset primary open-angle glaucoma (POAG). The purpose of this study was to determine whether MYOC gene mutations are associated with normal-tension glaucoma (NTG). The prevalence of MYOC mutations was determined in 80 Japanese NTG patients and 100 control subjects. In addition, the expression of mutant MYOC was determined by transforming COS-1 cells with five myocilin variants (R158Q, D208E, I360N, A363T, and I477S) and examining whether myocilin was present in the cultured cells and/or the culture medium by western blotting. Six different nucleotide sequence variants, R46Stop, R76K, R158Q, D208E, A488A, and one in the 3′ non-coding region, were identified in 80 NTG patients. Variants in codon 46 (R46Stop), codon 158 (R158Q), and codon 488 (A488A) were not found in the 100 normal controls. The frequency of other sequence changes (R76K, D208E, and 3′ non-coding) in NTG patients did not differ significantly from the frequencies in the control subjects. COS-1 cells transfected with the wild type, R158Q, or D208E variants secreted myocilin into the culture medium. On the other hand, the detected myocilin was significantly reduced in the medium of cells transfected with the I360N, A363T, or I477S variants that were previously identified as mutations for POAG. Definitive evidence of MYOC variants associated with NTG was not found. |
| Databáze: | OpenAIRE |
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