| 余嘉清,马依彤.胆固醇代谢新基因对多种疾病的影响研究进展[J].中国临床保健杂志,2025,28(4):562-568. |
| 胆固醇代谢新基因对多种疾病的影响研究进展 |
| Research progress on the impact of emerging genes in cholesterol metabolism on various diseases |
| 投稿时间：2025-04-20 |
| DOI：10.3969/J.issn.1672-6790.2025.04.024 |
| 中文关键词: 胆固醇 血脂异常 基因治疗 综述 |
| 英文关键词: Cholesterol Dyslipidemias Genetic therapy Review |
| 基金项目:中央引导地方科技发展专项资金项目(ZYYD2022A01) |
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| 中文摘要: |
| 近年来,肥胖、胆固醇异常与遗传因素的相关研究越来越多。研究发现,胆固醇代谢异常与心血管疾病、肝肾疾病、癌症和神经变性有关,3-羟基-3-甲基戊二酰辅酶A还原酶(HMGCR)、角鲨烯环氧化酶(SQLE)作为胆固醇合成中的已知控制点,被认为会影响胆固醇代谢,而3-磷酸甘油酸脱氢酶(PHGDH)参与丝氨酸代谢通路的调节,也被发现会影响血脂情况变化。本文将针对新兴的基因诊疗领域研究现状,重点围绕HMGCR、SQLE、PHGDH在部分心血管疾病、脂肪性肝病、糖尿病肾脏病、血脂紊乱、神经变性相关疾病及部分肿瘤发生发展中可能的应用前景做一综述。 |
| 英文摘要: |
| In recent years,there has been an increasing body of research concerning the associations between obesity,cholesterol abnormalities,and genetic factors.Studies have identified a connection between dysregulated cholesterol metabolism and various cardiovascular diseases,liver and kidney disorders,cancers,and neurodegenerative conditions.3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) and squalene epoxidase (SQLE),recognized as established regulatory points in cholesterol synthesis,are posited in the report to influence cholesterol metabolism.Additionally,3-phosphoglycerate dehydrogenase (PHGDH),which is involved in the regulation of the serine metabolic pathway,has also been found to influence variations in lipid profiles.This paper will provide a comprehensive review of the current state of research in the diagnostic and therapeutic fields concerning emerging genes,with a particular focus on the potential applications of HMGCR,SQLE,and PHGDH in the context of certain cardiovascular diseases,fatty liver disease,diabetic nephropathy,dyslipidemia,neurodegenerative diseases,and the occurrence and progression of specific tumors. |
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