相关实验视频

Updated: Jan 8, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

在与DNM1L相关的线粒体疾病的无血缘关系的中国患者中,对两种变异的功能鉴定

Zhenkun Zhang¹, Zhehui Chen², Xiaofan Bie¹

¹Henan Provincial Clinical Research Center for Pediatric Diseases, Henan Provincial Key Laboratory of Children's Genetics and Developmental Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, 450018, China.

|December 12, 2025

概括

类似Dynamin-1 (DNM1L) 基因中的新遗传变异与DRP1缺乏和各种神经系统疾病有关. 这项研究扩大了已知的DNM1L相关疾病的范围.

科学领域:

遗传学和分子生物学
神经科学是一个神经科学.
生物化学生物化学

背景情况:

DRP1蛋白质由动氨-1类 (DNM1L) 基因编码,对线粒体裂变至关重要,并与各种神经系统疾病有关.
与DNM1L相关的疾病表现出显著的临床异质性,使遗传诊断具有挑战性.

研究的目的:

确定异质表型患者DNM1L相关疾病的遗传基础.
描述新型DNM1L变异对DRP1蛋白功能和表达的功能影响.

主要方法:

整个外体序列测序 (WES) 用于检测受影响个体中的遗传变异.
生物信息学分析,3D蛋白质建模和体外实验被用于评估变异性病原性和功能影响.

主要成果:

两种新的DNM1L变体c.1049G>C (p.Gly350Ala) 和c.2161C>T (p.Gln721*) 在具有不同神经表现的患者中被确定 (脑病和半).
在和体外分析证实了这两种变体的有害性,p.Gly350Ala显著降低了DNM1L在转录和蛋白质水平上的表达.
该p.Gln721*变种降低了mRNA水平,但没有显著影响蛋白质水平.

结论:

已识别的DNM1L变异导致DRP1缺陷,可能导致DNM1L相关疾病表型的频谱.
这项研究扩大了对与DNM1L相关疾病及其多样化的临床表现相关的遗传变异的理解.

关键词:

DNM1L 基因基因基因基因孩子孩子孩子孩子 DRP1 DRP1 的使用方法表型谱的表型谱.变种变种变种变种整个外基因组的测序.

更多相关视频

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on: March 9, 2022

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

相关概念视频

Animal Mitochondrial Genetics

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...