Detection of ganciclovir resistance mutations by pyrosequencing in HCMV-infected pediatric patients

J Clin Virol. 2012 May;54(1):48-55. doi: 10.1016/j.jcv.2012.01.006. Epub 2012 Feb 1.

Abstract

Background: Human cytomegalovirus (HCMV) is an opportunistic pathogen especially for immuno-suppressed subjects that might develop pharmacological resistance in patients undergoing prolonged antiviral treatment. Ganciclovir (GCV) is the drug used as first choice therapy in affected children and a GCV-resistant phenotype is mainly linked to mutations of the viral protein kinase UL97.

Objectives: Here a new quantitative pyrosequence (PSQ) method is presented that allows detection and quantification of the viral species carrying the more frequent UL97 mutations responsible for GCV resistance in clinical samples (>80% of known cases).

Study design: The system has been validated using two independent approaches (cloning and sequencing of UL-97 gene fragments and real-time PCR) and clinical samples derived from 3 pediatric patients.

Results: The UL97 pyrosequencing analysis has indicated a significant increase of mutant viruses carrying the H520Q and C592G mutations. In particular, the H520Q viral mutation, known to increase GCV resistance (IC50=10) increased around 5 times during hospitalization. In addition, C592G (known to have IC50=2.9) also increased 3 times.

Conclusions: PSQ is a quick, cheap, high throughput and sensitive analysis method to detect GCV-associated resistance mutation useful to follow antiviral therapy in perinatal CMV-infection as well as in immune-suppressed patients.

Publication types

  • Case Reports
  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antiviral Agents / pharmacology*
  • Cytomegalovirus / drug effects*
  • Cytomegalovirus / genetics
  • Cytomegalovirus / isolation & purification
  • Cytomegalovirus Infections / virology*
  • DNA, Viral / chemistry
  • DNA, Viral / genetics
  • Ganciclovir / pharmacology*
  • Humans
  • Infant
  • Infant, Newborn
  • Microbial Sensitivity Tests / methods
  • Molecular Sequence Data
  • Mutation, Missense*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Sequence Analysis, DNA / methods*

Substances

  • Antiviral Agents
  • DNA, Viral
  • Phosphotransferases (Alcohol Group Acceptor)
  • ganciclovir kinase
  • Ganciclovir

Associated data

  • GENBANK/HM208322
  • GENBANK/HM208323
  • GENBANK/HM208324
  • GENBANK/HM208325
  • GENBANK/HM208326
  • GENBANK/HM208327
  • GENBANK/HM208328
  • GENBANK/HM208329
  • GENBANK/HM208330
  • GENBANK/HM352646
  • GENBANK/HM352647
  • GENBANK/HM352648
  • GENBANK/HM352649