Transcription factor RUNX1 regulates coagulation factor XIII-A (F13A1): decreased platelet-megakaryocyte F13A1 expression and clot contraction in RUNX1 haplodeficiency.

ABSTRACT:

Background

Germline RUNX1 haplodeficiency (RHD) is associated with thrombocytopenia, platelet dysfunction, and predisposition to myeloid malignancies. Platelet expression profiling of an RHD patient showed decreased F13A1, encoding for the A subunit of factor (F)XIII, a transglutaminase that cross-links fibrin and induces clot stabilization. FXIII-A is synthesized by hematopoietic cells, megakaryocytes, and monocytes.

Objectives

To understand RUNX1 regulation of F13A1 expression in platelets/megakaryocytes and the mechanisms and consequences of decreased F13A1 in RHD.

Methods

We performed studies in platelets, human erythroleukemia (HEL) cells, and human CD34+ cell-derived megakaryocytes including on clot contraction in cells followi

SUBMITTER: Del Carpio-Cano F 

PROVIDER: S-EPMC11849627 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature