Allele-specific silencing of the dominant disease allele in sialuria by RNA interference

FASEB J. 2008 Nov;22(11):3846-52. doi: 10.1096/fj.08-110890. Epub 2008 Jul 24.

Abstract

Dominant disease alleles are attractive therapeutic targets for allele-specific gene silencing by small interfering RNA (siRNA). Sialuria is a dominant disorder caused by missense mutations in the allosteric site of GNE, coding for the rate-limiting enzyme of sialic acid biosynthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase. The resultant loss of feedback inhibition of GNE-epimerase activity by CMP-sialic acid causes excessive production of free sialic acid. For this study we employed synthetic siRNAs specifically targeting the dominant GNE mutation c.797G>A (p.R266Q) in sialuria fibroblasts. We demonstrated successful siRNA-mediated down-regulation of the mutant allele by allele-specific real-time PCR. Importantly, mutant allele-specific silencing resulted in a significant decrease of free sialic acid, to within the normal range. Feedback inhibition of GNE-epimerase activity by CMP-sialic acid recovered after silencing demonstrating specificity of this effect. These findings indicate that allele-specific silencing of a mutated allele is a viable therapeutic strategy for autosomal dominant diseases, including sialuria.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Alleles*
  • Amino Acid Substitution
  • Cells, Cultured
  • Cytidine Monophosphate N-Acetylneuraminic Acid / pharmacology*
  • Fibroblasts / enzymology*
  • Genes, Dominant*
  • Humans
  • Multienzyme Complexes / antagonists & inhibitors*
  • Multienzyme Complexes / genetics
  • Multienzyme Complexes / metabolism
  • Mutation, Missense
  • RNA Interference*
  • RNA, Small Interfering / pharmacology*
  • Sialic Acid Storage Disease / drug therapy
  • Sialic Acid Storage Disease / enzymology*
  • Sialic Acid Storage Disease / genetics

Substances

  • Multienzyme Complexes
  • RNA, Small Interfering
  • UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
  • Cytidine Monophosphate N-Acetylneuraminic Acid