Vinsamlegast notið þetta auðkenni þegar þið vitnið til verksins eða tengið í það: http://hdl.handle.net/1946/23643
The Mitf (microphthalmia-associated transcription factor) gene has proven to be crucial for the correct RPE development, which is essential for the proper eye morphogenesis and for the proper function of the photoreceptors. Loss of function mutations in this gene can cause ocular hypopigmentation, microphthalmia and blindness. The purpose of this study was to analyze the retinal function of mice with various mutations in the Micropthtalmia-associated transcription factor (Mitf) gene. Electroretinography (ERG) was used for the evaluation and hence to determine the role of the MITF protein in retinal and visual function. In order to do so, Mitf mutations ranging in severity were selected, from a weak phenotypic effect (Mitfmi-enu122(398)) to the most severe (Mitfmi-wh/Mitfmi). Mitfmi-wh/+ and Mitfmi/+ mutants were also examined and compared to wild type mice (C57BL/6J). It was hypothesized that the impact of the mutations on the Mitf gene function would be based on its gene location. If that would have been the case, the only blind mutant would have been the Mitfmi-wh/Mitfmi heterozygotes. Instead, ERG recordings revealed that only one of the four mutant genotypes had any retinal function, the Mitfmi-enu122(398). Independent samples t-tests with 95% confidence intervals were performed on the data to test for the mean differences between the comparison groups, wild-type mice and the Mitfmi-enu122(398). The only significant comparisons (α= 0,05) were that the wild-type mice had significantly higher mean amplitudes of the photopic a-waves and scotopic oscillatory potentials. Furthermore, the Mitfmi-enu122(398) had significantly shorter implicit times for the photopic b-waves and scotopic c-waves. These results suggest that the MITF protein has a minor effect on the retinal function of the Mitfmi-enu122(398) mutant mice. Overall, this study further demonstrates the large impact that the Mitf gene has on retinal function.
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