相关实验视频

Updated: Jul 8, 2025

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

在第三个β-螺旋域中的LRP4位点特定变异会导致先天性肌痛综合征17型

Tariq Al Jabry¹, Nadia Al-Hashmi², Basem Abdelhadi²

¹Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

European journal of medical genetics

|December 15, 2023

概括

这项研究确定了一种新的双基因LRP4基因变异 (p.Glu1233Ala),导致严重的,新生儿致命的表型. 这扩大了LRP4相关神经肌肉疾病的已知范围.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
发展生物学发展生物学

背景情况:

低密度脂蛋白受体相关蛋白4 (LRP4) 对于神经肌肉结节的发育和功能至关重要.
致病性LRP4变体与诸如Cenani-Lenz综合征和17型先天性肌痛综合征 (CMS) 等综合征性疾病有关.
以前的CMS17病例涉及LRP4β-螺旋领域的变体,在儿童时期出现.

研究的目的:

报告一种与双性LRP4变异相关的新型,严重和新生儿致命的表型.
审查之前报告的LRP4相关的CMS病例.
描述致命新生儿疾病的遗传基础.

主要方法:

临床外体序列测序是在一个患有严重低血压和多种先天异常的新生儿身上进行的.
对与CMS相关的先前确定的LRP4变体的文献综述.
在LRP4基因中对已识别的同卵性致病变体进行分析.

主要成果:

一个女性新生儿出现了严重的低垂体,先天性隔膜,肺高血压和低氧化,导致新生儿致命的结果.
临床外基因组测序揭示了致病性LRP4变异NM_002334.4:c.3698A>C (p[Glu1233Ala]) 的同胞性.
这种变异位于与以前报告的CMS相关变异相同的区域.

结论:

确定的同卵性LRP4变体 (p.Glu1233Ala) 导致严重的,新生儿致命的表型,扩大了LRP4突变谱.
这一案例凸显了LRP4在早期发育和神经肌肉功能中的关键作用.
需要进一步的研究,以了解LRP4变异导致如此严重的表型的确切机制.

关键词:

乙胆的受体是什么农业农业公司在CMS17CMS17中使用.遗传性肌痛性综合征遗传性肌痛综合征在LRP4中使用LRP4.神经肌肉结节的神经肌肉结节

更多相关视频

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

相关概念视频

Conservative Site-specific Recombination and Phase Variation

Conservative Site-specific Recombination and Phase Variation

Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...