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东亚特有的LPL p.Ala288Thr (c.862G > A) 误解变体对蛋白质功能产生轻微影响

Yuepeng Hu¹, Guofu Zhang¹, Qi Yang¹

¹Department of Critical Care Medicine, Nanjing Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, No.305 East Zhongshan Road, Xuanwu District, Nanjing, 210002, Jiangsu, China.

Lipids in health and disease

|August 7, 2023

概括

这项研究确定了罕见的LPL误解变异,c.862G>A (p.Ala288Thr),在五名患有高甘油三血症相关急性胰腺炎 (HTG-AP) 的患者中. 该变种对LPL功能产生了轻微影响,这表明它与酒精消费等其他因素相结合时可能会导致HTG-AP.

科学领域:

遗传学是一个遗传学.
生物化学生物化学
分子生物学分子生物学

背景情况:

脂蛋白脂酶 (LPL) 对于甘油三的水解至关重要.
LPL基因变异与高甘油三血症 (HTG) 有关.
功能性分析是确认LPL误解变异的致病性的关键.

研究的目的:

为了研究一种罕见的LPL误解变异的临床和功能意义.
在中国患者中分析LPL变异与HTG相关的急性胰腺炎 (HTG-AP).

主要方法:

在HTG-AP患者中,LPL和相关基因的桑格测序.
在HEK-293T和COS-7细胞的体外表达研究.
西部斑点和LPL活动测定用于评估变异函数.

主要成果:

在五名HTG-AP患者中发现了一种罕见的东亚特有的LPL误解变体c.862G>A (p.Ala288Thr).
这种p.Ala288Thr变体并没有损害蛋白质合成或增加降解.
功能性测试显示轻微减少 (约. 20%) 在LPL蛋白质分泌中,这与之前的严重功能影响的说法相矛盾.

结论:

在HTG-AP患者中发现了LPLc.862G>A (p.Ala288Thr) 变种.
这种变异对LPL功能有轻微影响,主要影响蛋白质分泌.
这种LPL变体的组合异构性和酒精消费可能会触发HTG-AP.

关键词:

在急性胰腺炎中,酒精消费酒精消费酒精消费基因与环境的相互作用.过高甘油三血症是什么意思脂蛋白脂酶是一种脂蛋白脂酶.错误的意义的变体.

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