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在克里斯蒂安森综合征患者的淋巴细胞细胞中对两个SLC9A6框架转移变异的功能分析

Hailan He^1,2, Huiwen Zhang³, Hui Chen⁴

¹Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.

CNS neuroscience & therapeutics

|June 29, 2023

概括

克里斯蒂安森综合征 (CS) 与SLC9A6基因突变有关. 这项研究确定了新的变异,并表明线粒体和脂质代谢中的细胞变化,为CS提供了潜在的诊断方法.

科学领域:

遗传学遗传学是一种遗传学.
分子生物学分子生物学
细胞生物学细胞生物学

背景情况:

克里斯蒂安森综合征 (CS) 是一种罕见的遗传疾病,由SLC9A6基因突变引起.
CS的特点是全球发育迟缓,,高运动,缺氧,小头症和行为问题.
基底的精确分子机制 CS 病原体和方法的变异性病原性评估仍然不清楚.

研究的目的:

在两个受影响的个体中调查克里斯蒂安森综合征的分子基础.
识别新型SLC9A6变体并描述它们的功能后果.
探索CS.的潜在诊断标记物.

主要方法:

基于三元的整体外因子测序 (WES) 在两名疑似CS的患者身上进行.
表达分析,包括qRT-PCR和西部斑,在爱斯坦-巴尔病毒-淋巴体细胞系 (EBV-LCLs) 上进行.
菲律宾染色,溶酶酶分析和电子显微镜被用来评估细胞表型.

主要成果:

在这些患者中发现了两种新型半性SLC9A6变异,即c.1560dupT (p.T521Yfs*23) 和c.608delA (p.H203Lfs*10).
来自患者的EBV-LCL显示SLC9A6mRNA显著降低,没有可检测的NHE6蛋白.
电子显微镜揭示了患者细胞中状膜结构,变形的线粒体和脂质液滴的积累.

结论:

鉴定的SLC9A6变种导致功能NHE6蛋白质的损失,导致CS.
线粒体和脂质代谢的改变与克里斯蒂安森综合征的发病有关.
结合菲律宾染色和患者衍生的淋巴状细胞的电子显微镜,为CS提供了一种补充性诊断方法.

关键词:

在 SLC9A6A6 中.克里斯蒂安森综合征是什么意思在NHE6中,NHE6是NHE6.脂质脂质是什么意思脂质脂质是什么意思淋巴细胞类细胞 (lymphoblastoid cells) 是一种细胞.线粒体中的线粒体.

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