Infusion of platelets transiently reduces nucleoside overload in MNGIE

M. C. Lara, B. Weiss, I. Illa, P. Madoz, L. Massuet, A. L. Andreu, M. L. Valentino, Y. Anikster, M. Hirano, R. Martí*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

92 Scopus citations

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by thymidine phosphorylase (TP) deficiency, which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd). In this work, we report that infusion of platelets from healthy donors to patients with MNGIE restored transiently circulating TP and reduced plasma dThd and dUrd levels, suggesting that treatments to achieve permanent restoration of circulating TP such as allogeneic stem cell transplantation or gene transfer might be therapeutic.

Original languageEnglish
Pages (from-to)1461-1463
Number of pages3
JournalNeurology
Volume67
Issue number8
DOIs
StatePublished - Oct 2006

Funding

FundersFunder number
Fondo de Investigación SanitariaCP 04/0242, PI 03/0343
Marriott Mitochondrial Disorder Clinical Research Fund
National Institutes of Health
National Institute of Neurological Disorders and StrokeP01NS011766
Muscular Dystrophy Association
United Mitochondrial Disease Foundation04-42

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