PRKCG的非同义SNP变体及其与瘤基因的关联使人易患肝细胞癌
Fizzah Abid1, Khushbukhat Khan1, Yasmin Badshah1
1Department of Healthcare Biotechnology, Atta-Ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, 44010, Pakistan.
Cancer cell international
|June 21, 2023
概括
一种特定的PRKCG基因变异 (rs386134171) 与肝细胞癌 (HCC) 有关. 这一发现为HCC诊断和治疗策略提供了潜在的遗传标记.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 在瘤学瘤学.
背景情况:
- 蛋白质激酶C gamma (PKC γ) 是一个经典的蛋白质激酶C家族成员.
- 没有先前的研究将PRKCG单核酸多态 (SNPs) 与肝细胞癌 (HCC) 中PKC γ的结构/功能变化联系起来.
研究的目的:
- 研究PRKCG非同义SNP (nsSNP) 与HCC中PKC γ的结构/功能变化之间的关系.
- 为了确定HCC诊断和治疗的潜在遗传标记.
主要方法:
- 在分析包括PKC γ的3D结构预测 (Alphafold) 和分子动力学 (MD) 模拟.
- 在HCC患者和对照者中对PKC γ和相关基因 (HIF-1α,AKT,SOCS3,VEGF) 的基因型和mRNA表达分析.
- 对PRKCG表达和HCC生存率的评估.
主要成果:
- 在关键的PKC γ域中确定了15个nsSNP用于in-silico分析.
- 与对照组 (野生基因型GG) 相比,nsSNP rs386134171 (突变基因型AA) 在HCC患者中显示出明显更高的频率.
- MD模拟表明野生和突变PKC γ变体之间的潜在结构和稳定性变化.
结论:
- nsSNP rs386134171是一种潜在的HCC诊断的遗传标志物.
- 这项研究为未来对HCC遗传学和治疗干预措施的研究提供了基础.
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