Increased oxidative damage in carriers of the germline TP53 p.R337H mutation

PLoS One. 2012;7(10):e47010. doi: 10.1371/journal.pone.0047010. Epub 2012 Oct 9.

Abstract

Germline mutations in TP53 are the underlying defect of Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome, autosomal dominant disorders characterized by predisposition to multiple early onset cancers. In Brazil, a variant form of LFS/LFL is commonly detected because of the high prevalence of a founder mutation at codon 337 in TP53 (p.R337H). The p53 protein exerts multiple roles in the regulation of oxidative metabolism and cellular anti-oxidant defense systems. Herein, we analyzed the redox parameters in blood samples from p.R337H mutation carriers (C, n = 17) and non-carriers (NC, n = 17). We identified a significant increase in erythrocyte GPx activity and in plasma carbonyl content,an indicator of protein oxidative damage, in mutation carriers compared to non-carriers (P = 0.048 and P = 0.035, respectively). Mutation carriers also showed a four-fold increase in plasma malondialdehyde levels, indicating increased lipid peroxidation (NC = 40.20±0.71, C = 160.5±0.88, P<0.0001). Finally, carriers showed increased total antioxidant status but a decrease in plasma ascorbic acid content. The observed imbalance could be associated with deregulated cell bioenergetics and/or with increased inflammatory stress, two effects that may result from loss of wild-type p53 function. These findings provide the first evidence that oxidative damage occurs in carriers of a germline TP53 mutation, and these may have important implications regarding our understanding of the mechanisms responsible for germline TP53 p.R337H mutation-associated carcinogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Antioxidants / metabolism
  • Child
  • Child, Preschool
  • Codon / genetics*
  • Female
  • Germ-Line Mutation*
  • Heterozygote*
  • Humans
  • Infant
  • Male
  • Malondialdehyde / blood
  • Middle Aged
  • Oxidative Stress / genetics*
  • Tumor Suppressor Protein p53 / genetics*
  • Young Adult

Substances

  • Antioxidants
  • Codon
  • Tumor Suppressor Protein p53
  • Malondialdehyde

Grants and funding

This work was supported by Brazilian grants from CNPq (133439/2010-0), FAPERGS-PRONEX (10/0051-9), FIPE/HCPA, MCT/CNPq INCT-TM (573671/2008-7) and FAPERGS-PRONEX (10/0027-4). Initial steps in patient recruitment were funded, in part, by a grant from GlaxoSmithKline (2009 Ethnic Research Initiative Award to PA-P). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.