Heterozygote Wdr36-deficient mice do not develop glaucoma

Gallenberger M, Kroeber M, Maerz L, Koch M, Fuchshofer R, Braunger BM, Iwata T, Tamm ER (2014)

Publication Type: Journal article

Publication year: 2014

Journal

Experimental Eye Research Elsevier

Book Volume: 128

Pages Range: 83-91

DOI: 10.1016/j.exer.2014.09.008

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 Del605-607 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.

Involved external institutions

Universität Regensburg DE Germany (DE) Tokyo Medical Center / 独立行政法人国立病院機構東京医療センター JP Japan (JP)

How to cite

APA:

Gallenberger, M., Kroeber, M., Maerz, L., Koch, M., Fuchshofer, R., Braunger, B.M.,... Tamm, E.R. (2014). Heterozygote Wdr36-deficient mice do not develop glaucoma. Experimental Eye Research, 128, 83-91. https://doi.org/10.1016/j.exer.2014.09.008

MLA:

Gallenberger, Martin, et al. "Heterozygote Wdr36-deficient mice do not develop glaucoma." Experimental Eye Research 128 (2014): 83-91.

BibTeX: Download