库欣病中USP8复发性功能获得性突变
Recurrent gain-of-function USP8 mutations in Cushing's disease.
作者信息
Ma Zeng-Yi, Song Zhi-Jian, Chen Jian-Hua, Wang Yong-Fei, Li Shi-Qi, Zhou Liang-Fu, Mao Ying, Li Yi-Ming, Hu Rong-Gui, Zhang Zhao-Yun, Ye Hong-Ying, Shen Ming, Shou Xue-Fei, Li Zhi-Qiang, Peng Hong, Wang Qing-Zhong, Zhou Dai-Zhan, Qin Xiao-Lan, Ji Jue, Zheng Jie, Chen Hong, Wang Yin, Geng Dao-Ying, Tang Wei-Jun, Fu Chao-Wei, Shi Zhi-Feng, Zhang Yi-Chao, Ye Zhao, He Wen-Qiang, Zhang Qi-Lin, Tang Qi-Sheng, Xie Rong, Shen Jia-Wei, Wen Zu-Jia, Zhou Juan, Wang Tao, Huang Shan, Qiu Hui-Jia, Qiao Ni-Dan, Zhang Yi, Pan Li, Bao Wei-Min, Liu Ying-Chao, Huang Chuan-Xin, Shi Yong-Yong, Zhao Yao
机构信息
Department of Neurosurgery, Shanghai Pituitary Tumor Center, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China.
Bio-X Institutes, Ministry of Education Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai 200030, China.
出版信息
Cell Res. 2015 Mar;25(3):306-17. doi: 10.1038/cr.2015.20. Epub 2015 Feb 13.
Cushing's disease, also known as adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas (PAs) that cause excess cortisol production, accounts for up to 85% of corticotrophin-dependent Cushing's syndrome cases. However, the genetic alterations in this disease are unclear. Here, we performed whole-exome sequencing of DNA derived from 12 ACTH-secreting PAs and matched blood samples, which revealed three types of somatic mutations in a candidate gene, USP8 (encoding ubiquitin-specific protease 8), exclusively in exon 14 in 8 of 12 ACTH-secreting PAs. We further evaluated somatic USP8 mutations in additional 258 PAs by Sanger sequencing. Targeted sequencing further identified a total of 17 types of USP8 variants in 67 of 108 ACTH-secreting PAs (62.04%). However, none of these mutations was detected in other types of PAs (n = 150). These mutations aggregate within the 14-3-3 binding motif of USP8 and disrupt the interaction between USP8 and 14-3-3 protein, resulting in an elevated capacity to protect EGFR from lysosomal degradation. Accordingly, PAs with mutated USP8 display a higher incidence of EGFR expression, elevated EGFR protein abundance and mRNA expression levels of POMC, which encodes the precursor of ACTH. PAs with mutated USP8 are significantly smaller in size and have higher ACTH production than wild-type PAs. In surgically resected primary USP8-mutated tumor cells, USP8 knockdown or blocking EGFR effectively attenuates ACTH secretion. Taken together, somatic gain-of-function USP8 mutations are common and contribute to ACTH overproduction in Cushing's disease. Inhibition of USP8 or EGFR is promising for treating USP8-mutated corticotrophin adenoma. Our study highlights the potentially functional mutated gene in Cushing's disease and provides insights into the therapeutics of this disease.
库欣病,也称为分泌促肾上腺皮质激素(ACTH)的垂体腺瘤(PA),可导致皮质醇分泌过多,占促肾上腺皮质激素依赖性库欣综合征病例的85%。然而,这种疾病的基因改变尚不清楚。在此,我们对来自12个分泌ACTH的PA及其匹配的血液样本的DNA进行了全外显子测序,结果显示候选基因USP8(编码泛素特异性蛋白酶8)存在三种类型的体细胞突变,仅在12个分泌ACTH的PA中的8个的第14外显子中出现。我们通过桑格测序进一步评估了另外258个PA中的体细胞USP8突变。靶向测序进一步在108个分泌ACTH的PA中的67个(62.04%)中总共鉴定出17种USP8变体。然而,在其他类型的PA(n = 150)中未检测到这些突变中的任何一种。这些突变聚集在USP8的14-3-3结合基序内,破坏了USP8与14-3-3蛋白之间的相互作用,导致保护表皮生长因子受体(EGFR)免于溶酶体降解的能力增强。因此,USP8突变的PA显示出EGFR表达的更高发生率、EGFR蛋白丰度升高以及编码ACTH前体的阿黑皮素原(POMC)的mRNA表达水平升高。USP8突变的PA在大小上明显较小,并且比野生型PA产生更高水平的ACTH。在手术切除的原发性USP8突变肿瘤细胞中,USP8敲低或阻断EGFR可有效减弱ACTH分泌。综上所述,体细胞功能获得性USP8突变很常见,并导致库欣病中ACTH分泌过多。抑制USP8或EGFR有望用于治疗USP8突变的促肾上腺皮质激素腺瘤。我们的研究突出了库欣病中潜在的功能性突变基因,并为该疾病的治疗提供了见解。