Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation.
Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation.
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α-半乳糖苷酶 A 缺乏导致 V 因子 Leiden 突变纯合小鼠的组织纤维蛋白沉积和血栓形成增加。
DOI：
10.1161/01.str.0000206442.86238.39
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发表时间：
2006
期刊：
影响因子：
8.3
通讯作者：
Eitzman,DanielT
中科院分区：
文献类型：
--
作者：
Shen,Yuechun;Bodary,PeterF;Vargas,FernandoB;Homeister,JonathonW;Gordon,David;Ostenso,KristenA;Shayman,JamesA;Eitzman,DanielT
背景-莱顿因子V（FVL）是人类血管血栓形成的常见遗传危险因子。法布里病是一种X连锁的溶酶体贮积症，可归因于α-半乳糖苷酶A（GLA）缺乏，与可能是血栓性的过早血管事件有关。我们分析了携带FvL和Gla联合突变小鼠的组织纤维蛋白沉积，Gla缺乏显著增加了携带FvL突变小鼠的组织纤维蛋白沉积（0.33±0.03%; n=7）与FvL突变（0.14±0.02%; n=10;P<0.0005）相比。这些基因的伴随突变可能增加人类血管血栓形成事件的发生率。
Background—Factor V Leiden (FVL) is a common genetic risk factor for vascular thrombosis in humans. Fabry disease, an X-linked lysosomal storage disorder attributable to α-galactosidase A (GLA) deficiency, is associated with premature vascular events that may be thrombotic in nature.Methods and Results—To examine a potential interaction betweenFvLandGladeficiency in vivo, we analyzed tissue fibrin deposition in mice carrying combined mutations inFvLandGla.Gladeficiency markedly increased tissue fibrin deposition in mice carrying theFvLmutation (0.33±0.03%; n=7) compared withFvLmutation (0.14±0.02%; n=10;P<0.0005).Conclusions—These observations demonstrate a synergistic interaction betweenGladeficiency andFvLtoward tissue fibrin deposition in mice. Concomitant mutations in these genes may increase the penetrance of vascular thrombotic events in humans.