[Effect of alpha-galactosidase A deficiency on FV leiden fibrin deposition and thrombosis in mice].
OBJECTIVE
To evaluate the effect of alpha-galactosidase A (Gla) deficiency on FV Leiden (FVL) associated thrombosis in vivo.


METHODS
To generate the mice carrying mutations in Gla and FVL and analyze the tissue fibrin deposition in organs and thrombosis.


RESULTS
In the presence of FVL, Gla deficiency greatly increased tissue fibrin deposition compared with that in wild-type [Gla(-/0) FV(Q/Q) vs. Gla(+/0) FV(Q/Q) = (0.24 +/- 0.07)% vs. (0.086 +/- 0.049)%, P < 0.0001; Gla(-/-) FV(Q/Q) vs. Gla(+/+) FV(Q/Q) = (0.32 +/- 0.03)% vs. (0.06 +/- 0.005)%, P < 0.05]. With Gla deficiency, the number of thrombi on organ sections in FVL mice was significantly increased [(Gla(-/-) FV(Q/Q) and Gla(-/0) FV(Q/Q)) vs. (Gla(+/+) FV(Q/Q) and Gla(+/0) FV(Q/Q)) = 1.9 +/- 0.7 vs. 0.3 +/- 0.1, P < 0.05].


CONCLUSIONS
Gla deficiency could be an important genetic modifier for the enhanced thrombosis associated with FVL.
Shen
Yue-Chun
YC
First Affiliated Hospital, Guangzhou Medical College, Guangzhou 510120, China.
He
Zhao-Chu
ZC
Cai
Ru-Li
RL
Pan
Jie-Zhen
JZ
Wang
Xiao-Ming
XM
Li
Jun
J
D000818:Animals; D000795:Fabry Disease / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005838:Genotype; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D009154:Mutation; D013927:Thrombosis / Q000235:genetics* / Q000473:pathology
C095381:factor V Leiden; D005165:Factor V