Tromp Gerard, Weinsheimer Shantel, Ronkainen Antti, Kuivaniemi Helena
The Sigfried and Janet Weis Center for Research, Geisinger Health System , Danville, Pennsylvania , USA.
Ann Med. 2014 Dec;46(8):597-606. doi: 10.3109/07853890.2014.949299. Epub 2014 Aug 12.
Intracranial aneurysms, also called cerebral aneurysms, are dilatations in the arteries that supply blood to the brain. Rupture of an intracranial aneurysm leads to a subarachnoid hemorrhage, which is fatal in about 50% of the cases. Intracranial aneurysms can be repaired surgically or endovascularly, or by combining these two treatment modalities. They are relatively common with an estimated prevalence of unruptured aneurysms of 2%-6% in the adult population, and are considered a complex disease with both genetic and environmental risk factors. Known risk factors include smoking, hypertension, increasing age, and positive family history for intracranial aneurysms. Identifying the molecular mechanisms underlying the pathogenesis of intracranial aneurysms is complex. Genome-wide approaches such as DNA linkage and genetic association studies, as well as microarray-based mRNA expression studies, provide unbiased approaches to identify genetic risk factors and dissecting the molecular pathobiology of intracranial aneurysms. The ultimate goal of these studies is to use the information in clinical practice to predict an individual's risk for developing an aneurysm or monitor its growth or rupture risk. Another important goal is to design new therapies based on the information on mechanisms of disease processes to prevent the development or halt the progression of intracranial aneurysms.
颅内动脉瘤，也称为脑动脉瘤，是供应脑部血液的动脉出现的扩张。颅内动脉瘤破裂会导致蛛网膜下腔出血，约50%的病例会因此致命。颅内动脉瘤可以通过外科手术、血管内治疗或结合这两种治疗方式进行修复。它们相对常见，据估计成年人群中未破裂动脉瘤的患病率为2%-6%，并且被认为是一种具有遗传和环境风险因素的复杂疾病。已知的风险因素包括吸烟、高血压、年龄增长以及颅内动脉瘤的家族史阳性。确定颅内动脉瘤发病机制背后的分子机制很复杂。全基因组方法，如DNA连锁和遗传关联研究，以及基于微阵列的mRNA表达研究，提供了无偏倚的方法来识别遗传风险因素并剖析颅内动脉瘤的分子病理生物学。这些研究的最终目标是在临床实践中利用这些信息来预测个体发生动脉瘤的风险或监测其生长或破裂风险。另一个重要目标是根据疾病过程机制的信息设计新的疗法，以预防颅内动脉瘤的发生或阻止其进展。
