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VAV2 and VAV3 as Candidate Disease Genes for Spontaneous Glaucoma in Mice and Humans

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Title: VAV2 and VAV3 as Candidate Disease Genes for Spontaneous Glaucoma in Mice and Humans
Authors: Fujikawa, Keiko Browse this author
Iwata, Takeshi Browse this author
Inoue, Kaoru Browse this author →KAKEN DB
Akahori, Masakazu Browse this author
Kadotani, Hanako Browse this author
Fukaya, Masahiro Browse this author →KAKEN DB
Watanabe, Masahiko Browse this author →KAKEN DB
Chang, Qing Browse this author
Barnett, Edward M. Browse this author
Swat, Wojciech Browse this author
Issue Date: 4-Feb-2010
Publisher: Public Library of Science
Journal Title: PLoS ONE
Volume: 5
Issue: 2
Start Page: e9050
Publisher DOI: 10.1371/journal.pone.0009050
Abstract: Background: Glaucoma is a leading cause of blindness worldwide. Nonetheless, the mechanism of its pathogenesis has not been well-elucidated, particularly at the molecular level, because of insufficient availability of experimental genetic animal models. Methodology/Principal Findings: Here we demonstrate that deficiency of Vav2 and Vav3, guanine nucleotides exchange factors for Rho guanosine triphosphatases, leads to an ocular phenotype similar to human glaucoma. Vav2/Vav3-deficient mice, and to a lesser degree Vav2-deficient mice, show early onset of iridocorneal angle changes and elevated intraocular pressure, with subsequent selective loss of retinal ganglion cells and optic nerve head cupping, which are the hallmarks of glaucoma. The expression of Vav2 and Vav3 tissues was demonstrated in the iridocorneal angle and retina in both mouse and human eyes. In addition, a genome-wide association study screening glaucoma susceptibility loci using single nucleotide polymorphisms analysis identified VAV2 and VAV3 as candidates for associated genes in Japanese open-angle glaucoma patients. Conclusions/Significance: Vav2/Vav3-deficient mice should serve not only as a useful murine model of spontaneous glaucoma, but may also provide a valuable tool in understanding of the pathogenesis of glaucoma in humans, particularly the determinants of altered aqueous outflow and subsequent elevated intraocular pressure.
Type: article
Appears in Collections:保健科学院・保健科学研究院 (Graduate School of Health Sciences / Faculty of Health Sciences) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 井上 馨

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