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Dominant biological systems similar for certain diseases
Children with sickle cell anemia who develop circle of Willis disease have different polymorphisms than children not at risk for stroke, according to researchers from Minneapolis.
Blood outgrowth endothelial cells were collected from 20 patients with sickle cell anemia shown to be at risk or not at risk for ischemic stroke based on the presence or lack of circle of Willis disease.
No significant differences were identified through gene expression profiling; however, a Biological Systems Scores analysis demonstrated that changes in inflammation signaling an exaggerated RelA functional protein response were characteristic of at-risk patients.
Based on their findings, the researchers concluded that phenotypic heterogeneity can have a genetic endothelial basis. – by Cara Dickinson
Blood. 2008;11:3872-3879.
The amazing part of this is that the researchers have taken endothelial cells from patients with sickle cells from the blood, grown them up and shown that they express a set of genes that probably reflects what is going on within the patient. If one looks at the paper carefully, a few other gene sets are also very close to being significant, including genes for coagulation and adhesion. This is exciting because it may tell us something about sickle cell disease, but this technique of sampling genes in blood outgrowth endothelial cells may tell us a lot more about other vascular diseases.
The problem is that the “n” value is rather small, so this concept has to be borne out by some larger studies. The second problem is the issue of where these blood outgrowth endothelial cells are coming from. We just do not know whether there is variability, especially when one thinks about how most of the pathology in sickle cell disease is happening in the venous side, and this is on the arterial side. It would be interesting to sample venous endothelium and show that venous endothelium was similarly activated.
– Gregory M. Vercellotti, MD
HemOnc Today Editorial Board member