Aprelev Alexey, Weng Weijun, Zakharov Mikhail, Rotter Maria, Yosmanovich Donna, Kwong Suzanna, Briehl Robin W, Ferrone Frank A
Department of Physics, Drexel University, Philadelphia, PA 19104, USA.
J Mol Biol. 2007 Jun 22;369(5):1170-4. doi: 10.1016/j.jmb.2007.04.030. Epub 2007 Apr 19.
Sickle cell disease arises from a genetic mutation of one amino acid in each of the two hemoglobin beta chains, leading to the polymerization of hemoglobin in the red cell upon deoxygenation, and is characterized by vascular crises and tissue damage due to the obstruction of small vessels by sickled cells. It has been an untested assumption that, in red cells that sickle, the growing polymer mass would consume monomers until the thermodynamically well-described monomer solubility was reached. By photolysing droplets of sickle hemoglobin suspended in oil we find that polymerization does not exhaust the available store of monomers, but stops prematurely, leaving the solutions in a supersaturated, metastable state typically 20% above solubility at 37 degrees C, though the particular values depend on the details of the experiment. We propose that polymer growth stops because the growing ends reach the droplet edge, whereas new polymer formation is thwarted by long nucleation times, since the concentration of hemoglobin is lowered by depletion of monomers into the polymers that have formed. This finding suggests a new aspect to the pathophysiology of sickle cell disease; namely, that cells deoxygenated in the microcirculation are not merely undeformable, but will actively wedge themselves tightly against the walls of the microvasculature by a ratchet-like mechanism driven by the supersaturated solution.
镰状细胞病源于两条血红蛋白β链中每条链上一个氨基酸的基因突变,导致红细胞在脱氧时血红蛋白发生聚合,其特征是镰状细胞阻塞小血管,引发血管危机和组织损伤。一直以来存在一个未经检验的假设,即在发生镰状化的红细胞中,不断增长的聚合物会消耗单体,直到达到热力学上描述完善的单体溶解度。通过光解悬浮在油中的镰状血红蛋白液滴,我们发现聚合反应不会耗尽可用的单体储备,而是会过早停止,使溶液处于过饱和的亚稳态,在37摄氏度时通常比溶解度高出20%,不过具体数值取决于实验细节。我们认为聚合物生长停止是因为生长末端到达了液滴边缘,而新聚合物的形成因成核时间长而受阻,因为血红蛋白浓度因单体耗尽进入已形成的聚合物而降低。这一发现为镰状细胞病的病理生理学提出了一个新的方面;也就是说,在微循环中脱氧的细胞不仅变得不可变形,而且会通过由过饱和溶液驱动的类似棘轮的机制,主动紧紧楔入微血管壁。