Blood Transfusion Research Today is a free monthly online journal that collates and summarizes the latest research about Blood Transfusion, including details on blood donation, blood types, leukemia.

Infusion of platelets transiently reduces nucleoside overload in MNGIE.

Lara MC, Weiss B, Illa I, Madoz P, Massuet L, Andreu AL, Valentino ML, Anikster Y, Hirano M, Martí R

Laboratori de Patologia Neuromuscular i Mitocondrial, Institut de Recerca Hospital Universitari Vall d'Hebron, Pg. Vall d'Hebron 119, 08035 Barcelona, Spain.

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.

Published 24 October 2006 in Neurology, 67(8): 1461-3.
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