Selective silencing of a mutant transthyretin allele by small interfering RNAs

Biochem Biophys Res Commun. 2005 Nov 25;337(3):1012-8. doi: 10.1016/j.bbrc.2005.09.142. Epub 2005 Oct 3.

Abstract

Familial amyloidotic polyneuropathy (FAP) is a hereditary systemic amyloidosis caused by dominantly acting missense mutations in the gene encoding transthyretin (TTR). The most common mutant TTR is of the Val30Met type, which results from a point mutation. Because the major constituent of amyloid fibrils is mutant TTR, agents that selectively suppress mutant TTR expression could be powerful therapeutic tools. This study has been performed to evaluate the use of small interfering RNAs (siRNAs) for the selective silencing of mutant Val30Met TTR in cell culture systems. We have identified an siRNA that specifically inhibits mutant, but not wild-type, TTR expression even in cells expressing both alleles. Thus, this siRNA-based approach may have potential for the gene therapy of FAP.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloid Neuropathies, Familial / genetics*
  • Amyloid Neuropathies, Familial / metabolism
  • Animals
  • COS Cells
  • Chlorocebus aethiops
  • Gene Silencing*
  • Gene Targeting / methods*
  • Genetic Engineering / methods*
  • Genetic Therapy / methods
  • Humans
  • Mutagenesis, Site-Directed / methods
  • Prealbumin / genetics*
  • Prealbumin / metabolism
  • RNA, Small Interfering / genetics*

Substances

  • Prealbumin
  • RNA, Small Interfering