鼠标染色体1上的Tachol1 QTL负责高胆固醇血症和饮食引起的肥胖症
Jung Han Kim1, Marvin A Simpkins2, Nicholas T Williams2
1Department of Biomedical Sciences Joan C. Edwards School of Medicine, Marshall University, 1700 3rd Ave. BBSC #435K, Huntington, WV, 25755, USA. kimj@marshall.edu.
概括
这项研究证实,小鼠染色体1上的Tachol1位点显著增加了血胆固醇,并导致了饮食引起的肥胖. 这些在亚先天性小鼠中的发现突出了高胆固醇血症和肥胖症发展的关键遗传因素.
科学领域:
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
- 心血管健康 心血管健康
背景情况:
- 高胆固醇血症是一种常见的遗传性疾病,影响10%的美国人口,显著提高心血管风险.
- 大多数高胆固醇血症病例都具有多基因基础.
- 之前的研究已经确定了与高胆固醇血症相关的小鼠染色体1 (Chr1) 上的Tachol1定量特征位置.
研究的目的:
- 调查Tachol1位点在高胆固醇血症和饮食引起的肥胖症中的作用.
- 为了完善这些条件的致病区域的遗传映射.
主要方法:
- 在C57BL/6J (B6) 背景上生成并表征重叠的亚先天性小鼠线条,这些线条携带TALLYHO/JngJ (TH) Chr1区域的特定段落.
- 对和高脂肪 (HF) 饮食中的亚先天性小鼠 (B6.TH-Chr1-16.2 Mb) 的表型分析,包括血胆固醇水平,身体成分和食物摄入量.
- 在黑色素瘤2 (Aim2) 中缺席的基因和蛋白质表达分析.
主要成果:
- 与对照B6小鼠相比,亚先天性小鼠 (B6.TH-Chr1-16.2 Mb) 在和HF饮食中呈现显著升高的血总胆固醇.
- 在HF饮食中,B6.TH-Chr1-16.2 Mb小鼠在没有改变食物摄入量的情况下显示脂肪质量增加.
- 在B6.TH-Chr1-16.2 Mb小鼠中,Aim2的基因和蛋白质表达显著上调.
结论:
- 证实含有Tachol1的远端Chr1段对于高胆固醇血症是必要的,并有助于饮食诱导的肥胖症.
- 亚先天性分析成功地缩小了这些代谢表型的关键区域.
- Aim2的升级可能是下游效应或导致观察到的表型的因素.
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