Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Maria Lucia Valentino, Ramon Martí, Saba Tadesse, Luis Carlos López, Jose L. Manes, Judy Lyzak, Angelika Hahn, Valerio Carelli, Michio Hirano

Research output: Contribution to journalArticle

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease due to ECGF1 gene mutations causing thymidine phosphorylase (TP) deficiency. Analysis of post-mortem samples of five MNGIE patients and two controls, revealed TP activity in all control tissues, but not in MNGIE samples. Converse to TP activity, thymidine and deoxyuridine were absent in control samples, but present in all tissues of MNGIE patients. Concentrations of both nucleosides in the tissues were generally higher than those observed in plasma of MNGIE patients. Our observations indicate that in the absence of TP activity, tissues accumulate nucleosides, which are excreted into plasma.

Original languageEnglish
Pages (from-to)3410-3414
Number of pages5
JournalFEBS Letters
Volume581
Issue number18
DOIs
Publication statusPublished - Jul 24 2007

Keywords

  • Deoxyuridine
  • Mitochondria
  • MNGIE
  • Thymidine
  • Thymidine phosphorylase

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

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