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Defective platelet function in Niemann-Pick disease type C1.

Oscar C W Chen1, Alexandria Colaco1, Lianne C Davis1

  • 1Department of Pharmacology University of Oxford Oxford UK.

JIMD Reports
|November 18, 2020
PubMed
Summary

Niemann-Pick disease type C (NPC) affects platelet function, causing elevated platelet counts and impaired aggregation. This study reveals the critical role of calcium (Ca2+) flux in platelet lysosome-related organelle function in NPC disease.

Keywords:
Niemann‐Pick disease type Ccalcium (Ca2+)lysosomelysosome‐related organelle

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Area of Science:

  • Biochemistry
  • Cell Biology
  • Genetics

Background:

  • Niemann-Pick disease type C (NPC) is a neurodegenerative lysosomal storage disorder.
  • NPC is caused by mutations in NPC1 or NPC2 genes, leading to cholesterol and sphingolipid accumulation.
  • Lysosome-related organelle (LRO) dysfunction and altered calcium (Ca2+) flux are implicated in NPC.

Purpose of the Study:

  • To investigate lysosome-related organelle (LRO) function in platelets from NPC disease models and patients.
  • To determine the role of impaired acid compartment Ca2+ flux in NPC platelet dysfunction.

Main Methods:

  • Utilized a murine model of NPC1 disease.
  • Performed electron microscopy on murine platelets and U18666A-treated megakaryocyte cell line (MEG-01).
  • Analyzed platelet counts and volumes in NPC patients.

Main Results:

  • NPC1 disease mice exhibited elevated circulating platelet numbers, impaired aggregation, and prolonged bleeding times.
  • Abnormal platelet ultrastructure and lipid accumulation were observed in murine platelets and treated cell lines.
  • NPC patients' platelets showed lower-normal counts and upper-normal volumes.

Conclusions:

  • Acid compartment Ca2+ flux is crucial for platelet LRO function in Niemann-Pick disease type C.
  • Platelet abnormalities are a feature of NPC disease, with potential diagnostic implications.