image: Schematic representation of the mechanism leading to prolonged bleeding time due to RYR1 mutations. In normal conditions (left panel), early vasospasm occurring immediately after injury reduces bleeding (in coordination with platelets and coagulation factors not shown here). Mutations in RYR1 (right panel) result in hyperpolarization of the smooth muscle cell (SMC) membrane potential, reducing the ability of vessels to contract and ultimately increasing the bleeding time. PM: Plasma Membrane, SR: Sarcoplasmic Reticulum, RyR1: Ryanodine Receptor Type 1, BK: Calcium activated Potassium Channel. Blue balls: Potassium, peach balls: calcium sparks, WT: Wild Type, RyR1Y522S : MH knock-in. This material relates to a paper that appeared in the July 05, 2016, issue of Science Signaling, published by AAAS. The paper, by R.J. Lopez at Basel University Hospital in Basel, Switzerland, and colleagues was titled, "An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities." view more
Credit: Lopez et al., <i>Science Signaling</i> (2016)