Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia

Thromb Haemost. 2013 Feb;109(2):263-71. doi: 10.1160/TH12-07-0497. Epub 2012 Dec 6.

Abstract

ANKRD26-related thrombocytopenia (ANKRD26-RT) is an autosomal-dominant thrombocytopenia caused by mutations in the 5'UTR of the ANKRD26 gene. ANKRD26-RT is characterised by dysmegakaryopoiesis and an increased risk of leukaemia. PaCSs are novel particulate cytoplasmic structures with selective immunoreactivity for polyubiquitinated proteins and proteasome that have been detected in a number of solid cancers, in the epithelia of Helicobacter pylori gastritis and related preneoplastic lesions, and in the neutrophils of Schwachman-Diamond syndrome, a genetic disease with neutropenia and increased leukaemia risk. We searched for PaCSs in blood cells from 14 consecutive patients with ANKRD26-RT. Electron microscopy combined with immunogold staining for polyubiquitinated proteins, 20S and 19S proteasome showed PaCSs in most ANKRD26-RT platelets, as in a restricted minority of platelets from healthy controls and from subjects with other inherited or immune thrombocytopenias. In ANKRD26-RT platelets, the PaCS amount exceeded that of control platelets by a factor of 5 (p<0.0001). Immunoblotting showed that the higher PaCS number was associated with increased amounts of polyubiquitinated proteins and proteasome in ANKRD26-RT platelets. PaCSs were also extensively represented in ANKRD26-RT megakaryocytes, but not in healthy control megakaryocytes, and were absent in other ANKRD26-RT and control blood cells. Therefore, large amounts of PaCSs are a characteristic feature of ANKRD26-RT platelets and megakaryocytes, although these novel cell components are also present in a small subpopulation of normal platelets. The widespread presence of PaCSs in inherited diseases with increased leukaemia risk, as well as in solid neoplasms and their preneoplastic lesions, suggests a link of these structures with oncogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Blood Platelets / enzymology*
  • Blood Platelets / ultrastructure
  • Blotting, Western
  • Case-Control Studies
  • Cytoplasmic Structures / enzymology*
  • Cytoplasmic Structures / ultrastructure
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Immunohistochemistry
  • Male
  • Megakaryocytes / enzymology*
  • Megakaryocytes / ultrastructure
  • Microscopy, Electron, Transmission
  • Middle Aged
  • Mutation*
  • Phenotype
  • Proteasome Endopeptidase Complex / blood*
  • Thrombocytopenia / blood
  • Thrombocytopenia / enzymology*
  • Thrombocytopenia / genetics
  • Thrombocytopenia / pathology
  • Ubiquitination
  • Young Adult

Substances

  • Proteasome Endopeptidase Complex