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| FCHO1与人类疾病关系的新认识 |
| New understanding of the relationship between FCHO1 and human disease |
| 投稿时间：2025-02-11 修订日期：2025-03-18 |
| DOI： |
| 中文关键词: FCHO1 网格蛋白介导的内吞作用 癌症 免疫缺陷病 阿尔兹海默症 冠心病 |
| 英文关键词: FCHO1 Clathrin-mediated endocytosis Cancer Immune deficiency disease Alzheimer's disease Coronary artery disease |
| 基金项目:消化病/代谢病基础与临床转化重点实验室（YZ2020159） |
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| 中文摘要: |
| FCHO1(FCH domain only 1)蛋白在网格蛋白介导的内吞作用的初始阶段作用中起重要作用，这是一个涉及营养摄取、信号转导、细胞分化的生物学过程。近来FCHO1与恶性肿瘤、免疫缺陷病、阿尔兹海默症、冠心病的关系被相继报道。FCHO1在多种恶性肿瘤中表达升高，可参与癌细胞的细胞周期调控。FCHO1基因缺陷能导致联合免疫缺陷病，表现为反复且严重的感染和CD4+T细胞的减少。多数患者还存在其他淋巴细胞减少及低丙种蛋白血症，也可合并淋巴瘤、神经系统和消化系统疾患。FCHO1基因的变异可能与阿尔兹海默症的易感性相关，可能涉及网格蛋白介导的内吞对淀粉样蛋白内化和对突触囊泡和受体的调节。此外，一些表达数量性状位点和甲基化数量性状位点可以影响FCHO1的表达，这可能影响冠心病的发生风险。对FCHO1与这些疾病间认识的增加，可能有利于这些疾病的诊断和治疗。 |
| 英文摘要: |
| FCHO1(FCH domain only 1) protein plays an important role in the initial stage of clathrin-mediated endocytosis, which is a biological process involving nutrient uptake, signal transduction, and cell differentiation. Recently, the relationship between FCHO1 and malignant tumor, immune deficiency disease, Alzheimer's disease, coronary heart disease has been reported. The expression level of FCHO1 is elevated in various malignant tumors and can be involved in cell cycle regulation of cancer cells. Defects in the FCHO1 gene can lead to combined immunodeficiency disease, which is characterized by repeated and severe infections and a decrease in CD4+T cells. Most patients also have other types of lymphocytopenia and hypoproteinemia, as well as lymphoma, neurological and digestive diseases. Variations in the FCHO1 gene may be linked to susceptibility to Alzheimer's disease. This may be due to clathrin-mediated endocytosis, which regulates amyloid internalization and synaptic vesicles and receptor circulation. In addition, some expression and methylation quantitative trait loci can affect the expression of FCHO1, which may affect the risk of coronary heart disease. Increased awareness of the relationship between FCHO1 and these diseases may contribute to the diagnosis and treatment of these diseases. |
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