Defective acid hydrolase secretion in RUNX1 haplodeficiency: Evidence for a global platelet secretory defect.

ABSTRACT:

Background

RUNX1 haplodeficiency is associated with thrombocytopenia, platelet dysfunction and a predisposition to acute leukaemia. Platelets possess three distinct types of granules and secretory processes involving dense granules (DG), α-granules and vesicles or lysosomes containing acid hydrolases (AH). Dense granules and granule deficiencies have been reported in patients with RUNX1 mutations. Little is known regarding the secretion from AH-containing vesicles.

Methods and results

We studied two related patients with a RUNX1 mutation, easy bruising, and mild thrombocytopenia. Platelet aggregation and ¹⁴ C serotonin in platelet-rich plasma (PRP) were impaired in response to ADP, epinephrine, collagen and arachidonic acid. Contents of DG (ATP, ADP), α-granules (

SUBMITTER: Rao AK 

PROVIDER: S-EPMC5623153 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature