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SPTLC1对2型糖尿病的影响

Bo Yi¹, Yan Bao², Zhong-Yuan Wen²

¹Department of Endocrinology, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China. 1227yb@whu.edu.cn.

World journal of diabetes

|February 17, 2025

概括

一种新的SPTLC1突变 (p.G371R) 与具有强烈病史的家庭中成人发病的2型糖尿病 (T2D) 有关. 这一发现凸显了SPTLC1的重要性.

科学领域:

遗传学和分子生物学
内分泌学和新陈代谢学
人类遗传学人类遗传学

背景情况:

单核酸多态 (SNP) 与2型糖尿病 (T2D) 风险有关,但T2D中具有强烈家族史的单基因缺陷仍然不清楚.
SPTLC1突变导致遗传性感官和自主神经病变,这种疾病的症状与糖尿病外围神经病变重叠.
在小鼠中,脂肪细胞特异性的SPTLC1缺失会降低葡萄糖耐受性和胰岛素敏感性,这表明它在代谢调节中的作用.

研究的目的:

调查SPTLC1突变在表现出强烈遗传倾向的家庭中成人T2D中的作用.
在T2D的背景下分析已识别的SPTLC1变异的致病性和功能影响.

主要方法:

在T2D患者和家人身上进行了全外体序列测序,以确定SPTLC1变异.
生物信息分析评估了突变的影响,T2D中SPTLC1的基因水平关联,以及人类小岛上的SPTLC1mRNA水平 (GSE25724).
在HEK 293细胞中的功能测试评估了SPTLC1 G371R变异对炎性细胞因子和亡的影响.

主要成果:

在T2D家族中发现了一种可能致病的SPTLC1变种 (c.1111G>A:p.G371R),功能分析预测该变种具有有害性.
该SPTLC1 p.G371R突变增加了TNF-α表达和HEK 293T细胞的亡.
罕见的SPTLC1变异与T2D风险增加有关 (OR=2.4968,P=0.0164);T2D岛屿中较低的SPTLC1mRNA与减少的胰岛素mRNA相关 (r=0.615,P=0.025).

结论:

在具有强烈家族病史的成人T2D患者中,SPTLC1 p.G371R突变被归类为可能致病的.
这项研究确定了SPTLC1作为家族T2D的潜在致病基因.
这些发现强调了在T2D病例中对SPTLC1进行遗传查的重要性,这些病例具有家族史.

关键词:

细胞灭亡 (apoptosis) 是一种死亡的过程.糖尿病外围神经病变糖尿病外围神经病变基因突变是一种基因突变.炎症炎症是一种炎症.在SPTLC1中,2型糖尿病是什么? 2型糖尿病是什么

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