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Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation.

L Noé¹, M Di Michele, E Giets

¹Centre for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.

Journal of Thrombosis and Haemostasis : JTH

|April 21, 2010

Summary

A novel Regulator of G-protein signaling 2 (RGS2) mutation causes Gs hypofunction in platelets, leading to altered platelet size, shape, and granule content due to differential translation initiation. This study reveals the first platelet Gs signaling defect linked to RGS2 variants.

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Area of Science:

Molecular Biology
Hematology
Cell Signaling

Background:

Regulator of G-protein signaling (RGS) 2 inhibits adenylyl cyclase (AC) and Gs signaling.
RGS2 has four isoforms with varying AC inhibitory capacities; the largest is most potent.
The role of RGS2 in platelet function was previously unknown.

Purpose of the Study:

To characterize a heterozygous RGS2 mutation (G23D) causing Gs hypofunction in three patients.
To investigate the mechanism of RGS2 mutation effects on platelet function and morphology.

Main Methods:

Ex vivo platelet and in vitro transfected cell studies of Gs signaling.
In vitro evaluation of translation initiation.
Immunoprecipitation to study RGS2-AC interaction.
Proteomic analysis of platelet granule content.

Main Results:

The G23D mutation reduced cAMP production upon Gs-coupled receptor stimulation.
Larger, more potent RGS2 isoforms were enriched in mutation carriers.
G23D RGS2 exhibited stronger interaction with AC.
Carriers displayed enlarged, round platelets with abnormal alpha-granules and altered actin assembly proteins, suggesting reduced shape change.

Conclusions:

The first platelet Gs signaling defect attributed to a heterozygous RGS2 variant is described.
A unique mechanism involving differential translation initiation site usage, leading to distinct functional RGS2 isoforms, underlies the observed phenotype.