Oğuz Ali Kemal, Yılmaz Seda, Akar Nejat, Özdağ Hilal, Gürler Aysel, Ateş Aşkın, Oygür Çağdaş Şahap, Kılıçoğlu Sibel Serin, Demirtaş Selda
Department of Internal Medicine, Ufuk University School of Medicine, Ankara, Turkey; Biotechnology Institute, Ankara University, Ankara, Turkey.
Department of Internal Medicine, Ufuk University School of Medicine, Ankara, Turkey; Biotechnology Institute, Ankara University, Ankara, Turkey.
Med Hypotheses. 2015 Aug;85(2):186-91. doi: 10.1016/j.mehy.2015.04.032. Epub 2015 May 2.
C-type lectin domain family 12, member A (CLEC12A) is a C-type lectin-like pattern recognition receptor capable of recognizing monosodium urate crystals. Monosodium urate crystals, the causative agents of gout are also among the danger-associated molecular patterns reflecting cellular injury/cell death. In response to monosodium urate crystals, CLEC12A effectively inhibits granulocyte and monocyte/macrophage functions and hence acts as a negative regulator of inflammation. Behçet's syndrome and gout are autoinflammatory disorders sharing certain pathological (neutrophilic inflammation), clinical (exaggerated response to monosodium urate crystals) and therapeutic (colchicine) features. We propose the hypothesis that decreased expression of CLEC12A is a common denominator in the hyperinflammatory responses observed in Behçet's syndrome and gout. Major lines of evidence supporting this hypothesis are: (1) Downregulation/deficiency of CLEC12A is associated with hyperinflammatory responses. (2) CLEC12A polymorphisms with functional and clinical implications have been documented in other inflammatory diseases. (3) Colchicine, a fundamental therapeutic agent used both in Behçet's syndrome and gout is shown to oppose the downregulation of CLEC12A. (4) Behçet's syndrome and gout are characterized by a hyperinflammatory response to monosodium urate crystals and other than gout, Behçet's syndrome is the only inflammatory condition exhibiting this exaggerated response. (5) Genomewide linkage and association studies of Behçet's syndrome collectively point to 12p12-13, the chromosomal region harboring CLEC12A. (6) Patients with severe forms of Behçet's syndrome underexpress CLEC12A with respect to patients with mild forms of the disease. If supported by well-designed, rigorous experiments, the forementioned hypothesis pertinent to CLEC12A will carry important implications for therapy, designing experimental models, and uncovering immunopathogenic mechanisms in Behçet's syndrome and gout.
C型凝集素结构域家族12成员A(CLEC12A)是一种能够识别尿酸单钠晶体的C型凝集素样模式识别受体。尿酸单钠晶体是痛风的致病因子,也是反映细胞损伤/细胞死亡的危险相关分子模式之一。响应尿酸单钠晶体时,CLEC12A有效抑制粒细胞和单核细胞/巨噬细胞功能,因此作为炎症的负调节因子发挥作用。白塞病和痛风是自身炎症性疾病,具有某些病理(嗜中性粒细胞炎症)、临床(对尿酸单钠晶体的过度反应)和治疗(秋水仙碱)特征。我们提出假说,即CLEC12A表达降低是白塞病和痛风中观察到的过度炎症反应的共同特征。支持这一假说的主要证据如下:(1)CLEC12A的下调/缺陷与过度炎症反应相关。(2)在其他炎症性疾病中已记录到具有功能和临床意义的CLEC12A多态性。(3)秋水仙碱是白塞病和痛风中使用的一种基本治疗药物,已证明其可对抗CLEC12A的下调。(4)白塞病和痛风的特征是对尿酸单钠晶体有过度炎症反应,除痛风外,白塞病是唯一表现出这种过度反应的炎症性疾病。(5)白塞病全基因组连锁和关联研究共同指向12p12 - 13,即包含CLEC12A的染色体区域。(6)与轻度白塞病患者相比,重度白塞病患者CLEC12A表达不足。如果得到精心设计、严格实验的支持,上述与CLEC12A相关的假说将对治疗、设计实验模型以及揭示白塞病和痛风的免疫致病机制具有重要意义。