Evolution of high-level ethambutol-resistant tuberculosis through interacting mutations in decaprenylphosphoryl-β-D-arabinose biosynthetic and utilization pathway genes

Nat Genet. 2013 Oct;45(10):1190-7. doi: 10.1038/ng.2743. Epub 2013 Sep 1.

Abstract

To study the evolution of drug resistance, we genetically and biochemically characterized Mycobacterium tuberculosis strains selected in vitro for ethambutol resistance. Mutations in decaprenylphosphoryl-β-D-arabinose (DPA) biosynthetic and utilization pathway genes Rv3806c, Rv3792, embB and embC accumulated to produce a wide range of ethambutol minimal inhibitory concentrations (MICs) that depended on mutation type and number. Rv3806c mutations increased DPA synthesis, causing MICs to double from 2 to 4 μg/ml in a wild-type background and to increase from 16 to 32 μg/ml in an embB codon 306 mutant background. Synonymous mutations in Rv3792 increased the expression of downstream embC, an ethambutol target, resulting in MICs of 8 μg/ml. Multistep selection was required for high-level resistance. Mutations in embC or very high embC expression were observed at the highest resistance level. In clinical isolates, Rv3806c mutations were associated with high-level resistance and had multiplicative effects with embB mutations on MICs. Ethambutol resistance is acquired through the acquisition of mutations that interact in complex ways to produce a range of MICs, from those falling below breakpoint values to ones representing high-level resistance.

Publication types

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

MeSH terms

  • Antitubercular Agents / pharmacology
  • Antitubercular Agents / therapeutic use*
  • Arabinose / biosynthesis*
  • Arabinose / metabolism
  • Drug Resistance, Microbial / genetics*
  • Ethambutol / pharmacology
  • Ethambutol / therapeutic use*
  • Evolution, Molecular*
  • Microbial Sensitivity Tests
  • Mutation*
  • Mycobacterium tuberculosis / drug effects*

Substances

  • Antitubercular Agents
  • Ethambutol
  • Arabinose