Research press release


Nature Genetics

Gene mutation in retinitis pigmentosa


これまでに26のゲノム領域が網膜色素変性症に関与すると考えられてきたが、それぞれの領域は、症例のわずかな割合についての原因でしかなかった。眼科学研究所(英国ロンドン)のS Bhattacharyaらは、祖先の起源の異なる複数の家系を調べて、EYS遺伝子(眼に発現する最長の遺伝子)に6種類の突然変異を同定した。ここからEYS遺伝子が、網膜色素変性症の初めての「主要」遺伝子であることが示唆されている。この結果を報告する論文が、Nature Genetics(電子版)に掲載される。


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 this week 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.

doi: 10.1038/ng.241


メールマガジンリストの「Nature 関連誌今週のハイライト」にチェックをいれていただきますと、毎週各ジャーナルからの最新の「注目のハイライト」をまとめて皆様にお届けいたします。