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Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

Nair, K. Saidas ; Hmani-Aifa, Mounira ; Ali, Zain LU ; Kearney, Alison L. ; Salem, Salma Ben ; MacAlinao, Danilo G. ; Cosma, Ioan M. ; Bouassida, Walid ; Hakim, Bochra and Benzina, Zeineb , et al. (2011) In Nature Genetics 43(6). p.579-584
Abstract

Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined. High intraocular pressure induces glaucoma in ACG. High intraocular pressure traditionally was suggested to result from the iris blocking or closing the angle of the eye, thereby limiting aqueous humor drainage. Eyes from individuals with ACG often have a modestly decreased axial length, shallow anterior chamber and relatively large lens, features that predispose to angle closure. Here we show that genetic alteration of a previously unidentified serine protease (PRSS56) alters axial length and causes a mouse phenotype resembling ACG.... (More)

Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined. High intraocular pressure induces glaucoma in ACG. High intraocular pressure traditionally was suggested to result from the iris blocking or closing the angle of the eye, thereby limiting aqueous humor drainage. Eyes from individuals with ACG often have a modestly decreased axial length, shallow anterior chamber and relatively large lens, features that predispose to angle closure. Here we show that genetic alteration of a previously unidentified serine protease (PRSS56) alters axial length and causes a mouse phenotype resembling ACG. Mutations affecting this protease also cause a severe decrease of axial length in individuals with posterior microphthalmia. Together, these data suggest that alterations of this serine protease may contribute to a spectrum of human ocular conditions including reduced ocular size and ACG.

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publishing date
type
Contribution to journal
publication status
published
subject
in
Nature Genetics
volume
43
issue
6
pages
6 pages
publisher
Nature Publishing Group
external identifiers
  • pmid:21532570
  • scopus:79957621998
ISSN
1061-4036
DOI
10.1038/ng.813
language
English
LU publication?
no
id
6aebd897-d346-407c-8822-003ad3298506
date added to LUP
2020-03-19 14:10:27
date last changed
2024-09-05 19:05:53
@article{6aebd897-d346-407c-8822-003ad3298506,
  abstract     = {{<p>Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined. High intraocular pressure induces glaucoma in ACG. High intraocular pressure traditionally was suggested to result from the iris blocking or closing the angle of the eye, thereby limiting aqueous humor drainage. Eyes from individuals with ACG often have a modestly decreased axial length, shallow anterior chamber and relatively large lens, features that predispose to angle closure. Here we show that genetic alteration of a previously unidentified serine protease (PRSS56) alters axial length and causes a mouse phenotype resembling ACG. Mutations affecting this protease also cause a severe decrease of axial length in individuals with posterior microphthalmia. Together, these data suggest that alterations of this serine protease may contribute to a spectrum of human ocular conditions including reduced ocular size and ACG.</p>}},
  author       = {{Nair, K. Saidas and Hmani-Aifa, Mounira and Ali, Zain and Kearney, Alison L. and Salem, Salma Ben and MacAlinao, Danilo G. and Cosma, Ioan M. and Bouassida, Walid and Hakim, Bochra and Benzina, Zeineb and Soto, Ileana and Söderkvist, Peter and Howell, Gareth R. and Smith, Richard S. and Ayadi, Hammadi and John, Simon W.M.}},
  issn         = {{1061-4036}},
  language     = {{eng}},
  month        = {{06}},
  number       = {{6}},
  pages        = {{579--584}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Nature Genetics}},
  title        = {{Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice}},
  url          = {{http://dx.doi.org/10.1038/ng.813}},
  doi          = {{10.1038/ng.813}},
  volume       = {{43}},
  year         = {{2011}},
}