Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
- 作者：Maria Lucia Valentino ; Ramon Martı ; ´ ; Saba Tadesse ; Luis Carlos Ló ; pez ; Jose L. Manes ; Judy Lyzak ; Angelika Hahn ; Valerio Carelli ; Michio Hirano
- 关键词：Mitochondria ; MNGIE ; Thymidine phosphorylase ; Thymidine ; Deoxyuridine
- 刊名：FEBS Letters
- 出版年：2007
- 期刊代码：70_00145793
- 类别：bio
- 出版时间：24 July 2007
- 卷：581
- 期：18
- 页码：3410-3414
- 文件大小：82 K
摘要
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.