scholarly journals Biochemical Defects in 11-cis-Retinol Dehydrogenase Mutants Associated with Fundus Albipunctatus

2001 ◽  
Vol 276 (52) ◽  
pp. 49251-49257 ◽  
Author(s):  
Martin Lidén ◽  
Anna Romert ◽  
Kristian Tryggvason ◽  
Bengt Persson ◽  
Ulf Eriksson
10.1038/9707 ◽  
1999 ◽  
Vol 22 (2) ◽  
pp. 188-191 ◽  
Author(s):  
Hiroyuki Yamamoto ◽  
András Simon ◽  
Ulf Eriksson ◽  
Eddie Harris ◽  
Eliot L. Berson ◽  
...  

2000 ◽  
Vol 20 (12) ◽  
pp. 4275-4287 ◽  
Author(s):  
Carola A. G. G. Driessen ◽  
Huub J. Winkens ◽  
Kirstin Hoffmann ◽  
Leonoor D. Kuhlmann ◽  
Bert P. M. Janssen ◽  
...  

ABSTRACT To elucidate the possible role of 11-cis-retinol dehydrogenase in the visual cycle and/or 9-cis-retinoic acid biosynthesis, we generated mice carrying a targeted disruption of the 11-cis-retinol dehydrogenase gene. Homozygous 11-cis-retinol dehydrogenase mutants developed normally, including their retinas. There was no appreciable loss of photoreceptors. Recently, mutations in the 11-cis-retinol dehydrogenase gene in humans have been associated with fundus albipunctatus. In 11-cis-retinol dehydrogenase knockout mice, the appearance of the fundus was normal and punctata typical of this human hereditary ocular disease were not present. A second typical symptom associated with this disease is delayed dark adaptation. Homozygous 11-cis-retinol dehydrogenase mutants showed normal rod and cone responses. 11-cis-Retinol dehydrogenase knockout mice were capable of dark adaptation. At bleaching levels under which patients suffering from fundus albipunctatus could be detected unequivocally, 11-cis-retinol dehydrogenase knockout animals displayed normal dark adaptation kinetics. However, at high bleaching levels, delayed dark adaptation in 11-cis-retinol dehydrogenase knockout mice was noticed. Reduced 11-cis-retinol oxidation capacity resulted in 11-cis-retinol/13-cis-retinol and 11-cis-retinyl/13-cis-retinyl ester accumulation. Compared with wild-type mice, a large increase in the 11-cis-retinyl ester concentration was noticed in 11-cis-retinol dehydrogenase knockout mice. In the murine retinal pigment epithelium, there has to be an additional mechanism for the biosynthesis of 11-cis-retinal which partially compensates for the loss of the 11-cis-retinol dehydrogenase activity. 11-cis-Retinyl ester formation is an important part of this adaptation process. Functional consequences of the loss of 11-cis-retinol dehydrogenase activity illustrate important differences in the compensation mechanisms between mice and humans. We furthermore demonstrate that upon 11-cis-retinol accumulation, the 13-cis-retinol concentration also increases. This retinoid is inapplicable to the visual processes, and we therefore speculate that it could be an important catabolic metabolite and its biosynthesis could be part of a process involved in regulating 11-cis-retinol concentrations within the retinal pigment epithelium of 11-cis-retinol dehydrogenase knockout mice.


Author(s):  
B. J. Panessa ◽  
H. W. Kraner ◽  
J. B. Warren ◽  
K. W. Jones

During photoexcitation the retina requires specific electrolytes and trace metals for optimal function (Na, Mg, Cl, K, Ca, S, P, Cu and Zn). According to Hagins (1981), photoexcitation and generation of a nerve impulse involves the movement of Ca from the rhodopsin-ladened membranes of the rod outer segment (ROS) to the plasmalemma, which in turn decreases the in-flow of Na into the photoreceptor, resulting in hyperpolarization. In toad isolated retinas, the presence of Ba has been found to increase the amplitude and prolong the delay of the light response (Brown and Flaming, 1978). Trace metals such as Cu, Zn and Se are essential for the activity of the metalloenzymes of the retina and retina pigment epithelium (RPE) (i.e. carbonic anhydrase, retinol dehydrogenase, tyrosinase, glutathione peroxidase, superoxide dismutase...). Therefore the content and fluctuations of these elements in the retina and choroid are of fundamental importance for the maintenance of vision. This paper presents elemental data from light and dark adapted frog ocular tissues examined by electron beam induced x-ray microanalysis, x-ray fluorescence spectrometry (XRF) and proton induced x-ray emission spectrometry (PIXE).


Author(s):  
André Hädicke ◽  
Ana Coutinho ◽  
Sarah Roy ◽  
François Otis ◽  
Mustapha Lhor ◽  
...  

2002 ◽  
Vol 43 (4) ◽  
pp. 590-597
Author(s):  
Enyuan Shang ◽  
Katherine Lai ◽  
Alan I. Packer ◽  
Jisun Paik ◽  
William S. Blaner ◽  
...  

2022 ◽  
Author(s):  
Yi‐Dan Liu ◽  
Shu‐Shu Huang ◽  
Mei Li ◽  
Monkol Lek ◽  
Dan‐Yu Song ◽  
...  

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