相关实验视频

Updated: Jul 5, 2025

Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism

Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism

Published on: December 11, 2009

在自闭症中表达信号传导相关的 lncRNA 的表达试验

Ashkan Pourtavakoli¹, Soudeh Ghafouri-Fard², Solat Eslami³

¹Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Molecular biology reports

|January 24, 2024

概括

在患有自闭症谱系障碍 (ASD) 的儿童中观察到与相关的基因,包括SLC1A1和RYR2以及长非编码RNA LINC01231的改变表达. 这些发现表明信号通路在自闭症发展中的潜在作用.

科学领域:

神经科学是一个神经科学.
遗传学遗传学是一种遗传学.
分子生物学分子生物学

背景情况:

信号传递对于神经发育至关重要.
通路的失调与自闭症谱系障碍 (ASD) 病理生理学有关.

研究的目的:

研究患有自闭症儿童外周血液中特定相关基因和长非编码RNAs (lncRNAs) 的表达水平.
评估这些遗传标记在ASD中的潜在诊断价值.

主要方法:

在来自自闭症患者和健康儿童的外周血液样本中比较基因和lncRNA表达 (SLC1A1,SLC25A12,RYR2,ATP2B2,LINC01231,Inc-SLC25A12,Inc-MTR-1,LINC00606).
利用定量表达式分析和接收器操作特征 (ROC) 曲线来评估诊断功率.

主要成果:

在ASD样本中,SLC1A1表达显着较低 (调整后P=0.01).
在ASD病例 (调整P=0.0006) 和男性ASD病例 (调整P=0.0009) 中,LINC01231表达显著更高.
在自闭症儿童中,RYR2显著过度表达 (调整后P=0.029).
ROC曲线分析表明SLC1A1 (0.68),LINC01231 (0.75),RYR2 (0.67) 和lnc-SLC25A12 (0.59) 的诊断潜力.

结论:

这项研究强调了与相关的基因和lncRNAs在ASD发展中的潜在参与.
确定的特定遗传标记可能有助于理解ASD病原和诊断.

关键词:

在 ATP2B2 中, ATP2B2 是自闭症谱系障碍自闭症谱系障碍 LINC00606 在线咨询联系我们现在我们来看看 LINC0123131 .这就是RYR2的意思.在SLC1A1A1中.在 SLC25A1212 中.在MTR-1中.lnc-SLC25A1212 在线阅读在ncRNA中,我们可以

更多相关视频

Strategies for Assessing Autistic-Like Behaviors in Mice

Strategies for Assessing Autistic-Like Behaviors in Mice

Published on: September 20, 2024

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Published on: March 2, 2018

相关概念视频

lncRNA - Long Non-coding RNAs

lncRNA - Long Non-coding RNAs

In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...

Autism Spectrum Disorder

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.