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Infusion of platelets transiently reduces nucleoside overload in MNGIE

M C Lara1, B Weiss, I Illa

  • 1Laboratori de Patologia Neuromuscular i Mitocondrial, Institut de Recerca Hospital Universitari Vall d'Hebron, Pg. Vall d'Hebron 119, 08035 Barcelona, Spain.

Neurology
|September 15, 2006
PubMed

Insights

Platelet infusions temporarily restored thymidine phosphorylase (TP) in MNGIE patients, reducing toxic thymidine and deoxyuridine levels. This suggests stem cell or gene therapy could offer permanent TP restoration for MNGIE treatment.

Area of Science:

  • Biochemistry
  • Genetics
  • Neuroscience

Background:

  • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare genetic disorder.
  • It results from thymidine phosphorylase (TP) deficiency.
  • This deficiency causes toxic buildup of thymidine (dThd) and deoxyuridine (dUrd).

Observation:

  • Platelets contain functional thymidine phosphorylase (TP).
  • Infusion of platelets from healthy donors was administered to MNGIE patients.
  • Circulating TP levels and plasma dThd/dUrd concentrations were monitored.

Findings:

  • Platelet infusion transiently restored TP activity in MNGIE patients.
  • Plasma levels of toxic metabolites thymidine (dThd) and deoxyuridine (dUrd) were reduced.
  • This indicates a functional transfer of TP via platelets.

Implications:

  • Platelet therapy offers a potential temporary treatment for MNGIE.
  • Strategies for permanent TP restoration, like stem cell transplantation or gene therapy, warrant further investigation.
  • These findings open new avenues for managing MNGIE and related metabolic disorders.

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