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Gene Mutation in Retinitis Pigmentosa

  October, 16 2008 7:13
your information resource in human molecular genetics

Scientists have found mutations in a gene that account for a significant number of cases of retinitis pigmentosa, a hereditary disorder of the retina that leads to visual impairment, and in some cases, blindness.

Twenty-six regions of the genome have been implicated in retinitis pigmentosa, although each accounts for only a small percentage of cases. Online in Nature Genetics, Shomi Bhattacharya and colleagues identify six different mutations in a gene called EYS -- the largest gene expressed in the eye -- in families of different ancestral origins, suggesting that this is the first 'major' gene reported for the disorder.

Of particular interest, EYS is one of only four genes associated with human disease whose counterparts are disrupted or absent from rodent genomes. In the compound eyes of insects, it is strictly associated with a particular kind of retinal architecture, and the authors suggest that it may have a similar role in preserving the reliability of the light-responsive cells in the human retina. This finding should lead to a better understanding of retinitis pigmentosa and possible new targets for treatment.

Author contact:

Shomi Bhattacharya (Institute of Ophthalmology, London, UK)
E-mail: smbcssb@ucl.ac.uk

Abstract available online.

(C) Nature Genetics press release.

Message posted by: Trevor M. D'Souza

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