Infusion of platelets transiently reduces nucleoside overload in MNGIE

被引：79

作者：

Lara, M. C.

Weiss, B.

Illa, I.

Madoz, P.

Massuet, L.

Andreu, A. L.

Valentino, M. L.

Anikster, Y.

Hirano, M.

Marti, R.

机构：

[1] Ciudad Sanitaria & Univ Vall Hebron, Lab Patol Neuromuscular & Mitocondrial, Inst Rec Hosp, E-08035 Barcelona, Spain

[2] Safra Childrens Hosp, Dept Pediat, Tel Hashomer, Israel

[3] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel

[4] Hosp Univ Santa Creu & St Pau, Serv Neurol, Barcelona, Spain

[5] Hosp Univ Santa Creu & St Pau, Serv Hematol, Barcelona, Spain

[6] Ctr Transfus Banc Teixits, Barcelona, Spain

[7] Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY USA

来源：

NEUROLOGY | 2006年 / 67卷 / 08期

关键词：

D O I：

10.1212/01.wnl.0000239824.95411.52

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1461 / 1463

页数：3

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