A gain-of-function filamin A mutation in mouse platelets induces thrombus instability.

ABSTRACT:

Background

Filaminopathies A are rare disorders affecting the brain, intestine, or skeleton, characterized by dominant X-linked filamin A (FLNA) gene mutations. Macrothrombocytopenia with functionally defective platelets is frequent. We have described a filaminopathy A male patient, exhibiting a C-terminal frame-shift FLNa mutation (Berrou et al., Arterioscler Thromb Vasc Biol. 2017;37:1087-1097). Contrasting with female patients, this male patient exhibited gain of platelet functions, including increased platelet aggregation, integrin αIIbβ3 activation, and secretion at low agonist concentration, raising the issue of thrombosis risk.

Objectives

Our goal is to assess the thrombotic potential of the patient FLNa mutation in an in vivo model.

Methods

We have established

SUBMITTER: Adam F 

PROVIDER: S-EPMC9826440 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature