腺苷脱氨酶2与血管炎的相关性研究
进展

中国卒中杂志 ›› 2014, Vol. 9 ›› Issue (10): 864-868.

腺苷脱氨酶2与血管炎的相关性研究
进展

鞠俊，邹丽萍

100853 北京
中国人民解放军总医院
儿童医学中心儿内科

收稿日期:2014-07-02 出版日期:2014-10-20 发布日期:2014-10-20
通讯作者: 邹丽萍 zouliping21@hotmail. com

Research Progress of Correlation between Adenosine Deaminase 2 (ADA2) and Vasculitis

Department of Pediatrics, Chinese PLA General Hospital, Beijing
100853, China

Received:2014-07-02 Online:2014-10-20 Published:2014-10-20

摘要/Abstract

摘要：

血管炎性病变临床表现多样，病因复杂。新近研究发现，部分血管炎性病变可能与猫眼综合征染色体候选基因1（cat eye syndrome chromosome region，candidate 1，CECR1）突变导致CECR1基因编码的腺苷脱氨酶2（adenosine deaminase 2，ADA2）功能缺陷相关。多项研究在结节性多动脉炎和不能明确诊断的血管炎性疾病患者中发现了相同的突变位点，并证实了存在ADA2蛋白功能缺陷。作为腺嘌呤核苷代谢过程中的腺苷脱氨酶（adenosine deaminase，ADA）亚型之一的ADA2不论在早期胚胎发育，还是在特异性免疫系统中都发挥了作用，但目前对于ADA2的功能研究较少。推测ADA2缺陷可能通过增加腺苷水平和破坏血管内皮的完整性从而导致血管炎症的发生，机制尚待进一步研究。总之， ADA2缺陷可能揭示了ADA在人类疾病中的作用，为血管炎性疾病提供了诊断和治疗策略，现对其与血管炎的相关性研究做一综述，以期从遗传学角度探讨血管炎的病因。

文章导读： 部分血管炎性疾病与CECR1基因突变导致ADA2功能缺陷相关。

关键词: 腺苷脱氨酶2; 猫眼综合征染色体候选基因1; 血管炎性病变

Abstract:

The manifestations of vasculitis and vasculopathy are highly varied and have complicated etiology. Recent studies found that part of patients with vasculitis and vasculopathy may be associated with carrying recessively inherited gene mutation in CECR1 (cat eye syndrome chromosome region, candidate 1), encoding adenosine deaminase 2 (ADA2), which resulted in loss of function. The same mutations in CECR1 were found in patients with polyarteritis and vasculitis without being specifically defined in different research, and deficiency of ADA2 was confirmed. As one of adenosine deaminases (ADA), ADA2 functions in adenosine metabolism, and plays an important role both in early embryonic development and in immune system, but at present there is little study in function of ADA2. It is speculated that ADA2 deficiency induces vasculitis through adenosine increase and destruction of vascular endothelial integrity. The pathogenesis that ADA2 deficiency leads to both vasculopathy and vasculitis needs further study. In summary, deficiency of ADA2 may establish a role for ADA in human disease and provide potential diagnostic and therapeutic strategies for vasculitis. In this article, the relationship between ADA2 and vasculitis is reviewed in order to explore the etiology of vasculitis in genetics.

Key words: Adenosine deaminase 2; Cat eye syndrome chromosome region candidate 1 gene; Vasculitis and vasculopathy

鞠俊，邹丽萍. 腺苷脱氨酶2与血管炎的相关性研究
进展[J]. 中国卒中杂志, 2014, 9(10): 864-868.

JU Jun, ZOU Li-Ping.. Research Progress of Correlation between Adenosine Deaminase 2 (ADA2) and Vasculitis[J]. Chinese Journal of Stroke, 2014, 9(10): 864-868.

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