自闭症相关钙信号长链非编码 RNA 的表达谱分析。

Expression assay of calcium signaling related lncRNAs in autism.

机构信息

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Men's Health and Reproductive Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

Mol Biol Rep. 2024 Jan 24;51(1):185. doi: 10.1007/s11033-023-09182-x.

DOI:10.1007/s11033-023-09182-x

PMID:38265729

Abstract

BACKGROUND

Calcium signaling has essential roles in the neurodevelopmental processes and pathophysiology of related disorders for instance autism spectrum disorder (ASD).

METHODS AND RESULTS

We compared expression of SLC1A1, SLC25A12, RYR2 and ATP2B2, as well as related long non-coding RNAs, namely LINC01231, lnc-SLC25A12, lnc-MTR-1 and LINC00606 in the peripheral blood of patients with ASD with healthy children. Expression of SLC1A1 was lower in ASD samples compared with control samples (Expression ratio (95% CI) 0.24 (0.08-0.77), adjusted P value = 0.01). Contrary, expression of LINC01231 was higher in cases compared with control samples (Expression ratio (95% CI) 25.52 (4.19-154), adjusted P value = 0.0006) and in male cases compared with healthy males (Expression ratio (95% CI) 28.24 (1.91-418), adjusted P value = 0.0009). RYR2 was significantly over-expressed in ASD children compared with control samples (Expression ratio (95% CI) 4.5 (1.16-17.4), adjusted P value = 0.029). Then, we depicted ROC curves for SLC1A1, LINC01231, RYR2 and lnc-SLC25A12 transcripts showing diagnostic power of 0.68, 0.75, 0.67 and 0.59, respectively.

CONCLUSION

To sum up, the current study displays possible role of calcium related genes and lncRNAs in the development of ASD.

摘要

背景

钙信号在神经发育过程中起着至关重要的作用，与自闭症谱系障碍（ASD）等相关疾病的病理生理学也有密切关系。

方法和结果

我们比较了 ASD 患者和健康儿童外周血中 SLC1A1、SLC25A12、RYR2 和 ATP2B2 的表达以及相关长非编码 RNA，即 LINC01231、lnc-SLC25A12、lnc-MTR-1 和 LINC00606 的表达。与对照组相比，ASD 样本中 SLC1A1 的表达水平较低（表达比（95%CI）0.24（0.08-0.77），调整后的 P 值=0.01）。相反，与对照组相比，病例组中 LINC01231 的表达水平较高（表达比（95%CI）25.52（4.19-154），调整后的 P 值=0.0006），男性病例组与健康男性相比表达水平更高（表达比（95%CI）28.24（1.91-418），调整后的 P 值=0.0009）。与对照组相比，ASD 患儿 RYR2 的表达显著升高（表达比（95%CI）4.5（1.16-17.4），调整后的 P 值=0.029）。然后，我们绘制了 SLC1A1、LINC01231、RYR2 和 lnc-SLC25A12 转录本的 ROC 曲线，显示出 0.68、0.75、0.67 和 0.59 的诊断能力。