Gallenberger, Martin and Kroeber, Markus and Maerz, Loreen and Koch, Marcus and Fuchshofer, Rudolf and Braunger, Barbara M. and Iwata, Takeshi and Tamm, Ernst R. (2014) Heterozygote Wdr36-deficient mice do not develop glaucoma. EXPERIMENTAL EYE RESEARCH, 128. pp. 83-91. ISSN 0014-4835, 1096-0007
Full text not available from this repository. (Request a copy)Abstract
There is an ongoing controversy regarding the role of WDR36 sequence variants in the pathogenesis of primary open-angle glaucoma (POAG). WDR36 is a nucleolar protein involved in the maturation of 18S rRNA. The function of WDR36 is essential as homozygous Wdr36-deficient mouse embryos die before reaching the blastocyst stage. Here we provide a detailed analysis of the phenotype of heterozygous Wdr36-deficient mice. Loss of one Wdr36 allele causes a substantial reduction in the expression of Wdr36 mRNA. In the eyes of Wdr36(+/-) animals, the structure of the tissues involved in aqueous humor circulation and of the optic nerve head are not different from that of control littermates. In addition, one-year-old Wdr36(+/-) animals do not differ from wild-type animals with regards to intraocular pressure and number of optic nerve axons. The susceptibility of retinal ganglion cells to excitotoxic damage induced by NMDA is similar in Wdr36(+/-) and wild-type animals. Moreover, the amount of optic nerve axonal damage induced by high IOP is not different between Wdr36(+/-) and wild-type mice. Transgenic overexpression of mutated DeI605-607 Wdr36 in Wdr36(+/-) animals does not cause changes in the number of optic nerve axons or susceptibility to excitotoxic damage. In addition, analysis of 18S rRNA maturation in Del605-607 Wdr36(+/-) or Wdr36(+/-) mice does not show obvious differences in rRNA processing or in the amounts of precursor forms when compared to wild-type animals. Our data obtained in Wdr36(+/-) mice do not support the assumption of a causative role for WDR36 in the pathogenesis of POAG. (C) 2014 Elsevier Ltd. All rights reserved.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | OPEN-ANGLE GLAUCOMA; NORMAL-TENSION GLAUCOMA; OCULAR HYPERTENSION TREATMENT; DNA-SEQUENCE VARIANTS; WDR36 GENE; INTRAOCULAR-PRESSURE; RIBOSOME BIOGENESIS; MEDICATION DELAYS; GERMAN PATIENTS; MOUSE; Primary open-angle glaucoma; Animal model; Genetics |
| Subjects: | 500 Science > 570 Life sciences |
| Divisions: | Biology, Preclinical Medicine > Institut für Anatomie > Lehrstuhl für Humananatomie und Embryologie > Prof. Dr. Ernst Tamm |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 08 Aug 2019 10:36 |
| Last Modified: | 08 Aug 2019 10:36 |
| URI: | https://pred.uni-regensburg.de/id/eprint/9296 |
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