Diabetes, Metabolism and Endocrinology, Department of Internal Medicine (I), Faculty of Medicine, Osaka Medical and Pharmaceutical University, Takatsuki, Japan.
J Diabetes Investig. 2022 Apr;13(4):611-613. doi: 10.1111/jdi.13744. Epub 2022 Feb 4.
Rutsch et al. identified a patient with type 1 diabetes having a rare Src kinase-associated phosphoprotein 2 variant and investigated the details. As a result, they showed that rare Src kinase-associated phosphoprotein 2 c.475 G>A increases macrophage activity and promotes type 1 diabetes, as well as autoimmune and inflammatory diseases.
鲁奇等人鉴定了一名患有 1 型糖尿病的罕见 Src 激酶相关磷酸蛋白 2 变异体的患者,并对其进行了详细研究。结果表明,罕见的 Src 激酶相关磷酸蛋白 2 c.475 G>A 增加了巨噬细胞的活性,促进了 1 型糖尿病以及自身免疫和炎症性疾病的发生。