کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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4035076 | 1263504 | 2008 | 6 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: A transgenic mouse model for gene therapy of rhodopsin-linked Retinitis Pigmentosa A transgenic mouse model for gene therapy of rhodopsin-linked Retinitis Pigmentosa](/preview/png/4035076.png)
Mutational heterogeneity in genes causative of dominantly inherited disorders represents a significant barrier for development of therapies directed towards correction of the primary genetic defect. To circumvent the mutational heterogeneity present in rhodopsin- (RHO-) linked autosomal dominant Retinitis Pigmentosa (adRP), a strategy involving suppression and replacement of RHO has been adopted. RNA interference- (RNAi-) mediated suppression of RHO has been explored as has the generation of an RNAi-resistant replacement gene using the degeneracy of the genetic code. Additionally, the functional equivalence of codon-modified replacement genes has been demonstrated in a transgenic animal (RHO-M). Suppression and replacement, while exemplified by adRP, may also be relevant to many other dominantly inherited diseases with the hallmark of mutational heterogeneity.
Journal: Vision Research - Volume 48, Issue 3, February 2008, Pages 386–391