This month in genetics.

摘要

If you try to blow up a balloon with a weak spot, the weak spot gets bigger and-if you keep blowing-it's likely to burst. This is basically a simplified model of the connective tissue disorder vascular Ehlers-Danlos syndrome (EDS); the pressure and mechanical stress put on fragile tissues with defective type III collagen can lead to vascular or hollow organ rupture. This model led to the underlying premise of the BBEST trial, a prospective study to determine the effect of beta-blockers on vascular EDS: would reducing the heart rate and pulsatile pressures decrease the vascular complications associated with vascular EDS? The trial, in which affected individuals were randomly assigned to a group who received the hypertension drug celiprolol or to a control group, was planned as a five-year trial. Ong et al. recently reported the results of the trial, which was stopped early because of treatment benefit. Celiprolol treatment resulted in a 64% reduction in the risk of a major complication of vascular EDS, such as arterial rupture or dissection. The effect of celiprolol occurred despite the fact that the original rationale for the trial did not hold true; the drug did not reduce the heart rate or blood pressure of treated patients. This does not negate the risk reduction conferred by celiprolol treatment; it simply means that there is more to learn about the pathogenic process of vascular EDS.