Gene expression profiling of BHDS-associated renal tumors. Homo sapiens

Renal tumors that arise in individuals with BHD Syndrome represent a molecularly distinct form of renal cancer. In addition, BHD syndrome is due to a mutation the folliculin gene (FLCN). While the folliculin gene is an important tumor suppressor gene, the molecular function of this gene is not well defined. By analyzing tumor samples that contain FLCN mutations, we demonstrate that the FLCN gene is an important regulator of mitochondrial function. Overall design: Gene expression profiling of BHDS tumors and normal kidney tissues

伴发于BHD综合征（BHD Syndrome）患者的肾肿瘤，属于一类具有独特分子特征的肾癌亚型。此外，BHD综合征的致病根源为滤泡蛋白基因（folliculin gene, FLCN）发生突变。尽管该基因是一类重要的抑癌基因，但其具体的分子功能尚未被完全阐明。本研究通过对携带FLCN突变的肿瘤样本进行分析，证实FLCN基因是线粒体功能的重要调控因子。整体实验设计：对BHD综合征相关肿瘤组织与正常肾组织开展基因表达谱分析。