一项新的研究将子宫纤维瘤与MED12 基因突变联系在了一起，这种肿瘤会影响超过一半的50岁以上的妇女。尽管这些肿瘤是良性的，但它会引起严重的健康并发症，其中包括在妊娠期间的并发症，它们是子宫切除的最常见原因之一。
Netta Mäkinen及其在芬兰和瑞典的同事对来自80位患者的225个肿瘤样本进行了基因组序列信息的分析。 他们发现，MED12基因突变存在于70%以上的肿瘤之中。
MED12基因所编码的蛋白是中介体复合物（中介体复合物是一个调控基因表达的由26个亚基组成的转录因子）的一个亚基。 大多数的与肿瘤有关的突变都簇集于该蛋白的一个在整个进化过程中都是保守的区域中，这表明Med12蛋白的这一区域具有重要的功能，而这些突变破坏了该蛋白的功能。
生物探索推荐英文论文摘要：
MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas
ABSTRACT
Uterine leiomyomas, or fibroids, are benign tumors that affect millions of women worldwide and that can cause significant morbidity. To study the genetic basis of this tumor type, we examined 18 uterine leiomyomas derived from 17 different patients by exome sequencing, and identified tumor-specific mutations in the mediator complex subunit 12 (MED12) gene in 10. Through analysis of 207 additional tumors, we determined that MED12 is altered in 70% (159/225) of tumors from a total of 80 patients. The Mediator Complex is a 26-subunit transcriptional regulator that bridges DNA regulatory sequences to the RNA polymerase II initiation complex. All mutations resided in exon 2, suggesting that aberrant function of this region of MED12 contributes to tumorigenesis.
