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Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Author(s) -
Valentino Maria Lucia,
Martí Ramon,
Tadesse Saba,
López Luis Carlos,
Manes Jose L.,
Lyzak Judy,
Hahn Angelika,
Carelli Valerio,
Hirano Michio
Publication year - 2007
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2007.06.042
Subject(s) - thymidine phosphorylase , deoxyuridine , thymidine , mitochondrial encephalomyopathies , biology , biochemistry , chemistry , mitochondrial dna , gene , dna , mitochondrial myopathy , enzyme
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.