Publication

Selective silencing by RNAi of a dominant allele that causes amyotrophic lateral sclerosis

Ding, Hongliu
Schwarz, Dianne S.
Keene, Alex Carl
Affar, El Bachir
Fenton, Laura
Xia, Xugang
Shi, Yang
Zamore, Phillip D.
Xu, Zuoshang
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Alex Keene
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Academic Program
Neuroscience
Document Type
Journal Article
Publication Date
2003-08-26
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Abstract

RNA interference (RNAi) can achieve sequence-selective inactivation of gene expression in a wide variety of eukaryotes by introducing double-stranded RNA corresponding to the target gene. Here we explore the potential of RNAi as a therapy for amyotrophic lateral sclerosis (ALS) caused by mutations in the Cu, Zn superoxide dismutase (SOD1) gene. Although the mutant SOD1 is toxic, the wild-type SOD1 performs important functions. Therefore, the ideal therapeutic strategy should be to selectively inhibit the mutant, but not the wild-type SOD1 expression. Because most SOD1 mutations are single nucleotide changes, to selectively silence the mutant requires single-nucleotide specificity. By coupling rational design of small interfering RNAs (siRNAs) with their validation in RNAi reactions in vitro and in vivo, we have identified siRNA sequences with this specificity. A similarly designed sequence, when expressed as small hairpin RNA (shRNA) under the control of an RNA polymerase III (pol III) promoter, retains the single-nucleotide specificity. Thus, RNAi is a promising therapy for ALS and other disorders caused by dominant, gain-of-function gene mutations.

Source

Aging Cell. 2003 Aug;2(4):209-17.

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DOI
10.1046/j.1474-9728.2003.00054.x
PubMed ID
12934714
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