PDPR 基因变异可能导致乳头甲状腺癌的基因变异
Pamela Brock1, Myriam Sevigny2, Sandya Liyanarachchi3,4
1Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, USA.
Thyroid : official journal of the American Thyroid Association
|December 8, 2023
概括
酸盐脱酶酸酶调节 (PDPR) 基因中的新型遗传变异表明它在乳头甲状腺癌 (PTC) 易感性中起作用. 失去PDPR功能可能会导致甲状腺癌的发展.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 乳头甲状腺癌 (PTC) 是最常见的甲状腺癌亚型.
- 一些PTC病例表现出自体主导遗传模式,这表明一种遗传倾向.
- 识别新型易感基因对于理解PTC发育至关重要.
研究的目的:
- 识别新型基因和机制,这些基因和机制是皮皮类甲状腺癌易感性的基础.
- 调查酸盐脱酶酸酶调节 (PDPR) 变体在家族和零星PTC中的作用.
- 阐明甲状腺细胞中PDPR损失的功能后果.
主要方法:
- 在一个自体主导的PTC家族中进行全基因组测序.
- 在零星的PTC和与家族腺瘤多重症相关的PTC病例中选PDPR变异.
- CRISPR-Cas9基因编辑以创建缺少PDPR的细胞系.
- 细胞代谢和基因表达的分析.
主要成果:
- 在家族PTC队列的受影响成员和零星PTC病例中确定了截断PDPR拼接供体变异.
- 缺少PDPR的甲状腺细胞表现出改变的葡萄糖代谢和增加的酸盐脱酶酸化.
- 与正常组织相比,甲状腺癌组织中的PDPR基因表达显着较低.
结论:
- 在PDPR中,生殖系和体质变异与乳头甲状腺癌的风险增加有关.
- 在甲状腺细胞中,PDPR在调节葡萄糖代谢方面发挥着至关重要的作用.
- 失去PDPR功能与甲状腺癌瘤发生有关.
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