Department of Veterinary Clinical Sciences, University of Minnesota College of Veterinary Medicine, St. Paul, Minnesota, United States of America.
Minnesota Supercomputing Institute, University of Minnesota, Minneapolis, Minnesota, United States of America.
PLoS One. 2020 Oct 22;15(10):e0240975. doi: 10.1371/journal.pone.0240975. eCollection 2020.
Immune-mediated hemolytic anemia (IMHA) is a life-threatening autoimmune disorder characterized by a self-mediated attack on circulating red blood cells. The disease occurs naturally in both dogs and humans, but is significantly more prevalent in dogs. Because of its shared features across species, dogs offer a naturally occurring model for studying IMHA in people. In this study, we used RNA sequencing of whole blood from treatment-naïve dogs to study transcriptome-wide changes in gene expression in newly diagnosed animals compared to healthy controls. We found many overexpressed genes in pathways related to neutrophil function, coagulation, and hematopoiesis. In particular, the most highly overexpressed gene in cases was a phospholipase scramblase, which mediates the externalization of phosphatidylserine from the inner to the outer leaflet of cell membranes. This family of genes has been shown to be critically important for programmed cell death of erythrocytes as well as the initiation of the clotting cascade. Unexpectedly, we found marked underexpression of many genes related to lymphocyte function. We also identified groups of genes that are highly associated with the inflammatory response and red blood cell regeneration in affected dogs. We did not find any genes that distinguished dogs that lived vs. those that died at 30 days following diagnosis, nor did we find any relevant genomic signatures of microbial organisms in the blood of affected animals. Future studies are warranted to validate these findings and assess their implication in developing novel therapeutic approaches for dogs and humans with IMHA.
免疫介导性溶血性贫血(IMHA)是一种危及生命的自身免疫性疾病,其特征是循环红细胞的自我介导攻击。这种疾病在犬和人类中自然发生,但在犬中更为常见。由于其在物种间具有共同特征,犬为研究人类 IMHA 提供了一种自然发生的模型。在这项研究中,我们使用未经治疗的犬全血的 RNA 测序,研究与健康对照相比,新诊断动物的基因表达全转录组变化。我们发现许多与中性粒细胞功能、凝血和造血相关途径中的基因表达过度。特别是,病例中表达最高的基因是一种磷脂酶 scramblase,它介导细胞膜内磷脂酰丝氨酸从内叶到外叶的外化。这个基因家族对于红细胞的程序性死亡以及凝血级联的启动至关重要。出乎意料的是,我们发现许多与淋巴细胞功能相关的基因表达明显下调。我们还鉴定了与受影响犬的炎症反应和红细胞再生高度相关的基因群。我们没有发现任何可以区分在诊断后 30 天内存活和死亡的犬的基因,也没有在受影响动物的血液中发现任何与微生物有关的相关基因特征。未来的研究需要验证这些发现,并评估它们对开发犬和人类 IMHA 新治疗方法的影响。